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NM_031885.5(BBS2):c.1543G>A (p.Gly515Ser) AND Bardet-Biedl syndrome 2

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 24, 2020
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:
RCV001273908.1

Allele description [Variation Report for NM_031885.5(BBS2):c.1543G>A (p.Gly515Ser)]

NM_031885.5(BBS2):c.1543G>A (p.Gly515Ser)

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.1543G>A (p.Gly515Ser)
HGVS:
  • NC_000016.10:g.56498553C>T
  • NG_009312.2:g.26472G>A
  • NM_001377456.1:c.1543G>A
  • NM_031885.5:c.1543G>AMANE SELECT
  • NP_001364385.1:p.Gly515Ser
  • NP_114091.4:p.Gly515Ser
  • NC_000016.9:g.56532465C>T
  • NC_000016.9:g.56532465C>T
  • NG_009312.1:g.26731G>A
  • NM_031885.3:c.1543G>A
  • NM_031885.4:c.1543G>A
  • NR_165293.1:n.1833G>A
  • NR_165294.1:n.1830G>A
  • NR_165295.1:n.1661G>A
  • NR_165296.1:n.1533G>A
  • NR_165297.1:n.1533G>A
Protein change:
G515S
Links:
dbSNP: rs181107019
NCBI 1000 Genomes Browser:
rs181107019
Molecular consequence:
  • NM_001377456.1:c.1543G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_031885.5:c.1543G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_165293.1:n.1833G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165294.1:n.1830G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165295.1:n.1661G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165296.1:n.1533G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165297.1:n.1533G>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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001457502Natera, Inc.
no assertion criteria provided
Uncertain significance
(Jan 24, 2020)
germlineclinical testing

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV001457502.1

#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: Nov 30, 2024