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NM_031885.5(BBS2):c.1523A>C (p.Gln508Pro) AND Bardet-Biedl syndrome 2

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Feb 8, 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:
RCV000665496.4

Allele description [Variation Report for NM_031885.5(BBS2):c.1523A>C (p.Gln508Pro)]

NM_031885.5(BBS2):c.1523A>C (p.Gln508Pro)

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.1523A>C (p.Gln508Pro)
HGVS:
  • NC_000016.10:g.56499782T>G
  • NG_009312.2:g.25243A>C
  • NM_001377456.1:c.1523A>C
  • NM_031885.5:c.1523A>CMANE SELECT
  • NP_001364385.1:p.Gln508Pro
  • NP_114091.4:p.Gln508Pro
  • NC_000016.9:g.56533694T>G
  • NG_009312.1:g.25502A>C
  • NM_031885.3:c.1523A>C
  • NR_165293.1:n.1685A>C
  • NR_165294.1:n.1685A>C
  • NR_165295.1:n.1513A>C
  • NR_165296.1:n.1513A>C
  • NR_165297.1:n.1513A>C
Protein change:
Q508P
Links:
dbSNP: rs115328064
NCBI 1000 Genomes Browser:
rs115328064
Molecular consequence:
  • NM_001377456.1:c.1523A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_031885.5:c.1523A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_165293.1:n.1685A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165294.1:n.1685A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165295.1:n.1513A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165296.1:n.1513A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165297.1:n.1513A>C - 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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000789630Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))
Uncertain significance
(Feb 8, 2017)
unknownclinical testing

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

Citation Link,

SCV002089270Natera, Inc.
no assertion criteria provided
Likely benign
(Feb 25, 2020)
germlineclinical testing

Summary from all submissions

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

Citations

PubMed

Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes.

Redin C, Le Gras S, Mhamdi O, Geoffroy V, Stoetzel C, Vincent MC, Chiurazzi P, Lacombe D, Ouertani I, Petit F, Till M, Verloes A, Jost B, Chaabouni HB, Dollfus H, Mandel JL, Muller J.

J Med Genet. 2012 Aug;49(8):502-12. doi: 10.1136/jmedgenet-2012-100875. Epub 2012 Jul 7.

PubMed [citation]
PMID:
22773737
PMCID:
PMC3436454

Details of each submission

From Counsyl, SCV000789630.1

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

From Natera, Inc., SCV002089270.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 7, 2024