ClinVar Miner

Submissions for variant NM_031885.4(BBS2):c.311A>C (p.Asp104Ala) (rs121908179)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000587645 SCV000699657 pathogenic Bardet-Biedl syndrome 2016-06-30 criteria provided, single submitter clinical testing Variant summary: The c.311A>C (p.D104A) in BBS2 gene is a missense change that alters a conserved nucleotide and 5/5 in silico tools predict deleterious outcome. The variant was observed in the large and broad cohorts of the ExAC project at an allele frequency of 0.00005 exclusively in individuals of European descent (0.000075). This frequency does not exceed the maximal expected allele frequency for a pathogenic variant in BBS2 gene (0.0008). Fedick (2014) reports the carrier frequency of 0.473% (0.0071%) for Jewish population. The variant of interest has been reported in multiple BBS pts in compound heterozygous state and in 2 homozygous individuals presented with nonsyndromic autosomal recessive RP (Shevach, 2014). Taking together, the variant was classified as Pathogenic.
Fulgent Genetics,Fulgent Genetics RCV000762969 SCV000893410 likely pathogenic Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000587645 SCV001224789 pathogenic Bardet-Biedl syndrome 2019-12-31 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with alanine at codon 104 of the BBS2 protein (p.Asp104Ala). The aspartic acid residue is highly conserved and there is a moderate physicochemical difference between aspartic acid and alanine. This variant is present in population databases (rs121908179, ExAC 0.008%). This variant has been observed to segregate with Bardet-Biedl syndrome in families and it has also been observed to be homozygous or in combination with another BBS2 variant in individuals affected with this condition (PMID: 11567139, 23829372, 21642631, 21344540). This variant has been reported to affect BBS2 protein function (PMID: 20498079). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000004839 SCV000025015 pathogenic Bardet-biedl syndrome 1/2, digenic 2015-03-01 no assertion criteria provided literature only
OMIM RCV000190985 SCV000245872 pathogenic Retinitis pigmentosa 74 2015-03-01 no assertion criteria provided literature only
Counsyl RCV000665304 SCV000789398 likely pathogenic Bardet-Biedl syndrome 2 2017-01-30 no assertion criteria provided clinical testing
Sharon lab,Hadassah-Hebrew University Medical Center RCV001002876 SCV001160909 pathogenic Retinitis pigmentosa 2019-06-23 no assertion criteria provided research

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