Table 2:
Nucleotide | Amino Acida | Exon | GnomAD MAFb |
Polyphen Scorec |
SIFT Scored |
Human splice Finder |
Variant Classificatione |
Number of Families (Number of members) |
---|---|---|---|---|---|---|---|---|
c.37A>T | Lys13* | 1 | 0 | - | - | P | 1 (4) | |
c.98T>A | Val33Glu | 2 | 0 | 0.99 | 0 | LP | 1 (1) | |
c.215G>A | Gly72Glu | 3 | 0 | 1 | 0 | LP | 1 (3) | |
c.295del | Trp99Glyfs*3 | 3 | 0 | - | - | P | 1 (1) | |
c.317_333del | Gln106Argfs*9 | 3 | 0 | - | - | P | 1 (1) | |
c.344dup | Met115Ilefs*6 | 3 | 0 | - | - | P | 1 (2) | |
c.364C>A | Leu122Ile | 4 | 0 | 0.985 | 0 | LP | 1 (3) | |
c.379T>C | Ser127Pro | 4 | 0 | 0.832 | 0 | VUS | 1 (1) | |
c.422A>C | His141Pro | 4 | 0 | 0.99 | 0 | VUS | 1 (1)† | |
c.503C>A | Thr168Asn | 5 | 0 | 1 | 0 | LP | 1 (7) | |
c.511T>G | Phe171val | 5 | 0 | 1 | 0 | LP | 1 (1) | |
c.540T>A | Asn180Lys | 5 | 0 | 1 | 0 | LP | 1 (1) | |
c.554T>C | Leu185Pro | 5 | 0 | 1 | 0 | LP | 1 (3) | |
c.554T>G | Leu185Arg | 5 | 0 | 1 | 0 | LP | 1 (1) | |
c.579+4delA | Intron 5 | - | - | Alteration of the WT donor site | VUS | 1 (1) | ||
c.619G>T | Val207leu | 6 | 0 | 0.998 | 0 | LP | 1 (3) | |
c.630_632dup | Met210dup | 6 | 0 | LP | 2 (2,3) | |||
c.632T>A | Ile211Asn | 6 | 0 | 1 | 0 | LP | 1 (1) | |
c.678_679+2del | Gly227Hisfs*47 | 6 | 0 | - | - | P | 2 (3,1) | |
c.680-2A>C | Intron 6 | - | - | Alteration of the WT acceptor site | P | 1 (2) | ||
c.680G>A | Gly227Asp | 7 | 0 | 1 | 0 | LP | 1 (2) | |
c.756C>G | Cys252Trp | 7 | 0 | 1 | 0 | LP | 1 (2) | |
c.824G>T | Arg275Leu | 7 | 0 | 0.616 | 0 | LP | 1 (1) | |
c.841T>C | Ser281Pro | 7 | 0 | 1 | 0 | LP | 1(1) | |
c.848del | Asn283Thrfs*11 | 7 | 0 | - | - | P | 1 (1) | |
c.908G>A | Arg303Gln | 8 | 0.0004081% | 1 | 0 | LP | 1 (1) | |
c.919C>T | Leu307Phe | 8 | 0 | 0.718 | 0 | VUS | 1 (1)* | |
c.951 C>G | His317Gln | 8 | 0 | 0.013 | 0.17 | VUS | 1 (2) | |
c.1082dupC | T362Hisfs*97 | 9 | 0 | - | - | P | 1 (1) | |
c.1113C>A | Cys371* | 9 | 0 | - | - | P | 1 (1) | |
c.1130_1138del | Arg377_Ala379del | 9 | 0 | - | - | LP | 1 (3) | |
c.1173C>A | Asn391Lys | 9 | 0 | 1 | 0 | LP | 1 (1) | |
c.1181G>C | Arg394Pro | 9 | 0 | 0.99 | 0 | LP | 1 (1) | |
c.1229G>A | Gly410Asp | 9 | 0 | 1 | 0 | LP | 1 (1) |
Abbreviations: gnomAD, Genome Aggregation Database; WT, Wild Type; MAF, Minor Allele Frequency; N/A, not available
RefSeq reference transcript: NM_000162.3 (GCK)
MAF from gnomAD was calculated using allele count / allele number.
Polyphen-2 scores range from 0.0 to 1.0 and can be interpreted as follows: 0.0 to 0.15 –benign, 0.15 to 0.85 --possibly damaging, 0.85 to 1.0 -- probably damaging.
SIFT scores range from 0.0 to 1.0 and can be interpreted as follows: 0.0 to 0.05 -deleterious, 0.05 to 1.0 - tolerated (benign)
Variants were classified according to the ACMG 5-tier system: P, pathogenic; LP, likely pathogenic; VUS, variant of uncertain significance.
Gestational diabetes
Presumed to be de novo