NM_031885.4(BBS2):c.98C>A (p.Ala33Asp) AND Bardet-Biedl syndrome

Clinical significance:Pathogenic (Last evaluated: Aug 14, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001380380.1

Allele description [Variation Report for NM_031885.4(BBS2):c.98C>A (p.Ala33Asp)]

NM_031885.4(BBS2):c.98C>A (p.Ala33Asp)

Gene:
BBS2:Bardet-Biedl syndrome 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q13
Genomic location:
Preferred name:
NM_031885.4(BBS2):c.98C>A (p.Ala33Asp)
HGVS:
  • NC_000016.10:g.56519765G>T
  • NG_009312.1:g.5519C>A
  • NM_031885.4:c.98C>A
  • NP_114091.3:p.Ala33Asp
  • NC_000016.9:g.56553677G>T
  • NM_031885.3:c.98C>A
Protein change:
A33D; ALA33ASP
Links:
OMIM: 606151.0019; dbSNP: rs797045155
NCBI 1000 Genomes Browser:
rs797045155
Molecular consequence:
  • NM_031885.4:c.98C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Bardet-Biedl syndrome (BBS)
Identifiers:
MONDO: MONDO:0015229; MedGen: C0752166; Orphanet: 110; OMIM: PS209900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001578425Invitaecriteria provided, single submitter
Pathogenic
(Aug 14, 2020)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa.

Shevach E, Ali M, Mizrahi-Meissonnier L, McKibbin M, El-Asrag M, Watson CM, Inglehearn CF, Ben-Yosef T, Blumenfeld A, Jalas C, Banin E, Sharon D.

JAMA Ophthalmol. 2015 Mar;133(3):312-8. doi: 10.1001/jamaophthalmol.2014.5251.

PubMed [citation]
PMID:
25541840

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV001578425.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

This sequence change replaces alanine with aspartic acid at codon 33 of the BBS2 protein (p.Ala33Asp). The alanine residue is highly conserved and there is a moderate physicochemical difference between alanine and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with nonsyndromic retinitis pigmentosa and in individual(s) with clinical features of Bardet-Biedl syndrome (PMID: 25541840, Invitae). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 209042). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Tolerated; PolyPhen-2: Probably Damaging; Align-GVGD: Class C0). For these reasons, this variant has been classified as Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 16, 2021

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