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NM_031885.5(BBS2):c.1891G>A (p.Ala631Thr) AND Bardet-Biedl syndrome 2

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 15, 2017
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000665843.1

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:
Bardet-Biedl syndrome 2 (BBS2)
Identifiers:
MONDO: MONDO:0014432; MedGen: C2936863; Orphanet: 110; OMIM: 615981

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000790029Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Uncertain significance
(Mar 15, 2017) 		unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals.

Janssen S, Ramaswami G, Davis EE, Hurd T, Airik R, Kasanuki JM, Van Der Kraak L, Allen SJ, Beales PL, Katsanis N, Otto EA, Hildebrandt F.

Hum Genet. 2011 Jan;129(1):79-90. doi: 10.1007/s00439-010-0902-8. Epub 2010 Oct 30.

PubMed [citation]
PMID:
21052717
PMCID:
PMC3646619

Details of each submission

From Counsyl, SCV000790029.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 24, 2024