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NM_031885.5(BBS2):c.1891G>A (p.Ala631Thr) AND BBS2-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 15, 2023
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV004527724.2

Allele description [Variation Report for NM_031885.5(BBS2):c.1891G>A (p.Ala631Thr)]

NM_031885.5(BBS2):c.1891G>A (p.Ala631Thr)

Gene:
BBS2:Bardet-Biedl syndrome 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q13
Genomic location:
Preferred name:
NM_031885.5(BBS2):c.1891G>A (p.Ala631Thr)
HGVS:
  • NC_000016.10:g.56496986C>T
  • NG_009312.2:g.28039G>A
  • NM_001377456.1:c.1891G>A
  • NM_031885.5:c.1891G>AMANE SELECT
  • NP_001364385.1:p.Ala631Thr
  • NP_114091.4:p.Ala631Thr
  • NC_000016.9:g.56530898C>T
  • NG_009312.1:g.28298G>A
  • NM_031885.3:c.1891G>A
  • NR_165293.1:n.2181G>A
  • NR_165294.1:n.2178G>A
  • NR_165295.1:n.2009G>A
  • NR_165296.1:n.1881G>A
  • NR_165297.1:n.1881G>A
Protein change:
A631T
Links:
dbSNP: rs771822557
NCBI 1000 Genomes Browser:
rs771822557
Molecular consequence:
  • NM_001377456.1:c.1891G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_031885.5:c.1891G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_165293.1:n.2181G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165294.1:n.2178G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165295.1:n.2009G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165296.1:n.1881G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165297.1:n.1881G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
BBS2-related disorder
Synonyms:
BBS2-Related Disorders; BBS2-related condition
Identifiers:
MedGen: CN239228

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004109802PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Uncertain significance
(Dec 15, 2023) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004109802.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The BBS2 c.1891G>A variant is predicted to result in the amino acid substitution p.Ala631Thr. This variant was reported as a single heterozygous variant allele in an individual with Bardet-Biedl syndrome (Janssen et al 2011. PubMed ID: 21052717). This variant is reported in 0.0062% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/16-56530898-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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

Last Updated: Nov 24, 2024