Table 2.
SNVs and small indels identified in known BBS genes in 18 affected individuals with BBS (primary causal alleles or secondary alleles)
| Family ID | Ethnic Origin | Cons. | BBS gene | Transcript ID | Nucleotide change | Amino acid change | ACMG Class | dbSNP ID | Ref | gnomAD* | |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Allele counts (Hom/Het/Wt) | Frequency | ||||||||||
| DM1565 | Arab | YES | BBS2 | NM_031885.5 | c.1528G>T (H) | p.Val510Phe | LP | − | 85 | − | − |
| DM1566 | E. Eur | NO | BBS4 | NM_033028.5 | c.332+8T>C (h) | p.Ala74Aspfs*7 | P | rs1456405256 | − | 0/01/250944 | 3.98e-6 |
| DM1567 | E. Eur | NO | BBS7 | NM_176824.3 | c.712_715del (h) | p.Arg238Glufs*59 | P | rs760165634 | 86 | 0/13/250940 | 5.18e-5 |
| DM1569 | Rom | NO | BBS12 | NM_152618.3 | c.1063C>T (H) | p.Arg355* | P | rs121918327 | 37 | 0/07/251322 | 2.79e-5 |
| DM1570 | E. Eur | NO | BBS5 | NM_152384.3 | c.619–1G>C (H) | − | P | rs753234582 | 78 | 0/04/250308 | 1.60e-5 |
| DM1571 | E. Eur | NO |
BBS7
BBS7 |
NM_176824.3 | c.68T>G (h) c.712_715del (h) |
p.Leu23Arg p.Arg238Glufs*59 |
LP P |
rs1727380420 rs760165634 |
**
86 |
−0/13/250940 | −5.18e-5 |
| DM1572 | E. Eur | NO | BBS4 | NM_033028.5 | c.1091C>A (H) | p.Ala364Glu | LP | rs28938468 | 87 | − | − |
| DM1573 | Rom | NO | BBS12 | NM_152618.3 | c.1063C>T (H) | p.Arg355* | P | rs121918327 | 37 | 0/07/251322 | 2.79e-5 |
| DM1574 | E. Eur | NO |
BBS10
BBS10 |
NM_024685.4 | c.145C>T (h) c.1804G>C (h) |
p.Arg49Trp p.Val602Leu |
LP LP |
rs768933093 rs778431173 |
88
88 |
0/15/279274 0/01/248576 |
5.37e-5 4.02e-6 |
| IFT172 | NM_015662.3 | c.1715G>A (h) | p.Arg572Gln | VUS | rs764302265 | − | 0/13/282810 | 4.60e-5 | |||
| DM1576 | E. Eur | NO | BBS1 | NM_024649.5 | c.1169T>G (h) | p.Met390Arg | P | rs113624356 | 79 | 0/444/282790 | 1.57e-3 |
| DM1582 | E. Eur | YES | BBS10 | NM_024685.4 | c.273C>G (H) | p.Cys91Trp | LP | rs148374859 | 89 | 0/07/248572 | 2.82e-5 |
| DM1584 | E. Eur | NO | BBS12 | NM_152618.3 | c.1063C>T (H) | p.Arg355* | P | rs121918327 | 37 | 0/07/251322 | 2.79e-5 |
| DM1585 | E. Eur | YES | BBS12 | NM_152618.3 | c.1063C>T (H) | p.Arg355* | P | rs121918327 | 37 | 0/07/251322 | 2.79e-5 |
| DM1587 | Rom | NO | BBS12 | NM_152618.3 | c.1063C>T (H) | p.Arg355* | P | rs121918327 | 37 | 0/07/251322 | 2.79e-5 |
| DM1588 | Rom | NO | BBS12 | NM_152618.3 | c.1063C>T (H) | p.Arg355* | P | rs121918327 | 37 | 0/07/251322 | 2.79e-5 |
| BBS5 | NM_152384.3 | c.226A>G (h) | p.Ile76Val | VUS | rs763696357 | − | 0/05/250968 | 1.99e-5 | |||
| DM1589 | E. Eur | NO | BBS12 | NM_152618.3 | c.1063C>T (H) | p.Arg355* | P | rs121918327 | 37 | 0/07/251322 | 2.79e-5 |
| SCAPER | NM_020843.4 | c.3293G>A (h) | p.Arg1098Gln | VUS | rs771454836 | − | 0/05/248920 | 2.01e-5 | |||
| NPHP1 | NM_000272.5 | c.1630A>G (h) | p.Met544Val | VUS | rs373953762 | − | 0/01/251420 | 3.98e-6 | |||
| DM1590 | E. Eur | NO | BBS7 | NM_176824.3 | c.712_715del (H) | p.Arg238Glufs*59 | P | rs760165634 | 86 | 0/13/250940 | 5.18e-5 |
| DM1591 | E. Eur | NO |
BBS12
BBS12 |
NM_152618.3 | c.1392_1395del (h) c.1682_1682del (h) |
p.Cys464Trpfs*7 p.Glu561Lysfs*10 |
P P |
− − |
− − |
− − |
− − |
*
The Genome Aggregation Database v2.1.1 (https://gnomad.broadinstitute.org/); all populations;
**
ClinVar accession VCV000940124.1. Abbreviations: Hom, homozygous; Het, heterozygous; WT, wild type reference. Abbreviations: Cons., consanguinity; E. Eur, European; H, homozygous; h, heterozygous; LP, likely pathogenic; P, pathogenic; Rom, Romani, VUS, variant of uncertain significance. Modifiers or secondary alleles are listed under primary causal loci wherever applicable.