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. 2021 Nov 4;12:664645. doi: 10.3389/fendo.2021.664645

Table 7.

Summary of the recurring variants in our POI cohorts.

Gene Transcript cDNA Variation Protein Variation PatientID Pheno-type POI group freq. (N=107) gnomAD exomes (female) freq. Varsome link HGMD Ref.
ADAMTS5 NM_007038 c.1729G>A p.Gly577Ser 9 eSA 0.0186916 0.0151 varso.me/RpWE
46 SA
APC2 NM_005883 c.2887C>T p.Arg963Trp 11 SA 0.0093458 0.0000135 varso.me/TdbK
c.932C>T p.Ser311Leu 22 SA 0.0093458 – varso.me/Tdbc
ATG4C NM_032852 c.607dupT p.Trp203Leufs*4 8 eSA 0.0093458 0.000659 varso.me/T0VM
c.774_777del p.Ile258Metfs*13 20 SA 0.0093458 0.0000546 varso.me/T0Vd
ATM NM_000051 c.418G>C p.Asp140His 3 46,XX OD 0.0093458 – varso.me/LMjL (29)
c.1444A>C p.Lys482Gln 2 eSA 0.0093458 0.000104 varso.me/FFvg
c.4829G>C p.Arg1610Thr 20 SA 0.0093458 not available varso.me/T0Bg
c.7375C>T p.Arg2459Cys 13 SA 0.0093458 0.0000433 varso.me/SIfh
ATR NM_001184 c.4610T>A p.Leu1537* 16 PA 0.0093458 not available varso.me/TZxD (30)
c.2783A>G p.Gln928Arg 1 PA 0.0093458 not available varso.me/TZxU
BMP15 NM_005448 c.202C>T p.Arg68Trp 23 SA 0.0186916 0.000708 varso.me/Ne2w (31)
54 PA
c.406G>C p.Val136Leu 55 PA 0.0093458 0.00000866 varso.me/TZn5
COL6A2 NM_001849 c.343C>T p.Arg115Trp 22 SA 0.0093458 0.00000873 varso.me/N8DA
c.511G>A p.Gly171Arg 2 eSA 0.0093458 0.00114 varso.me/Orla
c.2308G>C p.Glu770Gln 38 eSA 0.0093458 not available varso.me/TZnl
c.2575G>A p.Val859Met 33 SA 0.0093458 0.000241 varso.me/ReIP
CYP21A2 NM_000500 c.844G>T p.Val282Leu 2 eSA 0.0186916 not available varso.me/N9iB CM880022
32 SA
c.1360C>T p.Pro454Ser 3 46,XX OD 0.0093458 not available varso.me/Jl3r CM920233
ERBB4 NM_005235 c.3344T>A p.Val1115Glu 5 SA 0.0093458 not available varso.me/T1xM (32)
c.95C>T p.Thr32Met 0.0093458 - varso.me/T1x2
FSHR NM_000145 c.491C>T p.Ser164Phe 10 SA 0.0093458 not available varso.me/T1wg (33)
c.847C>T p.Arg283Trp 3 46,XX OD 0.0093458 0.000052 varso.me/SWBI
c.926G>C p.Gly309Ala 49 SA 0.0186916 not available varso.me/S1eC
56 PA
c.1964G>C p.Arg655Thr 49 SA 0.0093458 not available varso.me/S1eT
c.909-917del p.Tyr303* 50 SA 0.0093458 – varso.me/TZcz
c.1118G>A p.Ser373Asn 0.0093458 not available varso.me/T1ug
GDF9 NM_005260 c.362C>T p.Thr121Ile 52 PA 0.0093458 0.000277 varso.me/TZ8s (6, 34)
c.566C>T p.Thr189Ile 53 PA 0.0093458 not available varso.me/TZ8M
c.307C>T p.Pro103Ser 57 PA 0.0093458 0.0028 varso.me/TZ99
c.278A>G p.Tyr93Cys 23 SA 0.0093458 not available varso.me/Tjdt
c.1121C>T p.Pro374Leu 0.0093458 0.0000346 varso.me/Tjdi CM066831
HK3 NM_002115 c.2077A>C p.Met693Leu 30 SA 0.0093458 0.000165 varso.me/TjkN (23)
c.2389G>A p.Glu797Lys 14 SA 0.0093458 0.000113 varso.me/TjkG
LARS2 NM_015340 c.1021T>G p.Cys341Gly 1 PA 0.0093458 not available varso.me/TdCz (35)
c.1717T>C p.Phe573Leu 0.0093458 not available varso.me/TdEN
c.2192A>T p.Tyr731Phe 12 SA 0.0093458 not available varso.me/TdGx
c.457A>C p.Asn153His 18 SA 0.0093458 not available varso.me/R5je
MLH3 NM_001040108 c.3466G>A p.Val1156Ile 1 PA 0.0093458 0.0000696 varso.me/SR8H CM1410381
c.3943G>A p.Glu1315Lys 31 SA 0.0093458 – varso.me/TjgS
NCOR2 NM_006312 c.3755C>A p.Pro1252Gln 6 46,XX OD 0.0093458 not available varso.me/T2Av
c.3709G>A p.Val1237Ile 13 SA 0.0093458 0.00000886 varso.me/T2BI
c.3760C>T p.Arg1254Cys 4 PA 0.0093458 0.000123 varso.me/T2BR
NOBOX NM_001080413 c.331G>A p.Gly111Arg 59 SA 0.0093458 0.0000131 varso.me/TZr6 CM152396 (36–38)
c.1626delC p.Phe543Serfs*7 6 46,XX OD 0.0093458 – varso.me/T1kg
c.1112A>C p.Lys371Thr 24 46,XX OD 0.0093458 0.000238 varso.me/SWXS
NR5A1 NM_004959 c.1063G>A p.Val355Met 6 46,XX OD 0.0186916 0.000122 varso.me/TdLE CM076367 (36)
44 SA
c.502G>C p.Ala168Pro 9 eSA 0.0093458 - varso.me/TdIj
PKP1 NM_000299 c.883C>G p.Leu295Val 5 SA 0.0093458 0.00014 varso.me/T2AC
c.2096A>T p.Lys699Met 42 SA 0.0093458 0.000156 varso.me/T2Ao
POLG NM_001126131 c.752C>T p.Thr251Ile 16 PA 0.0186916 0.00147 varso.me/FCE6 CM021660 (40)
13 SA
c.803G>C p.Gly268Ala 18 SA 0.0092592 0.00339 varso.me/IbzD CM033442
c.1760C>T p.Pro587Leu 16 PA 0.0186916 0.0015 varso.me/Ez4d CM03133
13 SA
c.3436C>T p.Arg1146Cys 48 SA 0.0093458 0.000182 varso.me/N8U8 CM060433
RAD52 NM_134424 c.175G>A p.Gly59Arg 10 SA 0.0093458 0.000699 varso.me/Td7L
c.761C>T p.Thr254Met 4 PA 0.0093458 0.000149 varso.me/Td7a
c.388G>A p.Glu130Lys 19 SA 0.0093458 0.000138 varso.me/Td7m
RAD54L NM_003579 c.604C>T p.Arg202Cys 4 PA 0.0093458 0.00324 varso.me/FIC4
c.2209C>A p.Gln737Lys 35 PA 0.0093458 not available varso.me/TZvx
RBBP8 NM_002894 c.2516G>A p.Arg839Gln 12 SA 0.0186916 0.000415 varso.me/Fdvl
19 SA
RELN NM_005045 c.2015C>T p.Pro672Leu 28 eSA 0.0093458 0.000139 varso.me/GFVk
c.3651C>G p.Ile1217Met 34 SA 0.0093458 0.00255 varso.me/TCd9
RYR3 NM_001036 c.393C>A p.Asp131Glu 4 PA 0.0093458 – varso.me/T1hi
c.592A>G p.Met198Val 5 SA 0.0093458 – varso.me/T1gq
c.14584C>T p.Arg4862Cys 2 eSA 0.0093458 0.0000175 varso.me/T1fv
c.13709 G>A p.Arg4570His 39 SA 0.0093458 0.00000877 varso.me/T1hS
SAMD11 NM_152486 c.628C>T p.Arg210Cys 33 SA 0.0093458 0.000536 varso.me/N60l
c.682_683insT p.Pro228Leufs*227 8 eSA 0.0560748 0.000183 varso.me/N7qi
5 SA
17 eSA
47 SA
21 SA
30 SA
STAG3 NM_012447 c.1079G>A p.Arg360His 24 46,XX OD 0.0093458 – varso.me/SWXv (41)
c.3433G>A p.Glu1145Lys 49 SA 0.0093458 0.0000346 varso.me/S1e5
c.1678-10_2228del p.? 58 PA 0.0093458 not available varso.me/TZuL
VWF NM_000552 c.4508T>C p.Leu1503Pro 7 PA 0.0093458 not available varso.me/TYo1 CM095108
c.4517C>T p.Ser1506Leu 7 PA 0.0186916 - varso.me/TYnR CM930731
14 SA
c.5641G>A p.Asp1881Asn 14 SA 0.0093458 not available varso.me/T1dI

PA, Primary Amenorrhea; SA, Secondary Amenorrhea; eSA, early Secondary Amenorrhea; 46,XX OD, Ovarian Dysgenesis with normal karyotype (46,XX).

Gene variations are shown, together with the patients’ phenotype. Genetic alterations genes and variants already associated to POI are shown in green and red characters, respectively. The frequency in our POI women (n= 107) and in the female population are given, together with the HGMD, if available.