NM_000059.3(BRCA2):c.1907C>G (p.Ser636Ter) AND Breast-ovarian cancer, familial 2

Clinical significance:Pathogenic (Last evaluated: Sep 8, 2016)

Review status:3 stars out of maximum of 4 stars

reviewed by expert panel

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000082893.3

Allele description [Variation Report for NM_000059.3(BRCA2):c.1907C>G (p.Ser636Ter)]

NM_000059.3(BRCA2):c.1907C>G (p.Ser636Ter)

Gene:
BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q13.1
Genomic location:
Preferred name:
NM_000059.3(BRCA2):c.1907C>G (p.Ser636Ter)
HGVS:
  • NC_000013.11:g.32333385C>G
  • NG_012772.3:g.22906C>G
  • NM_000059.3:c.1907C>G
  • NP_000050.2:p.Ser636Ter
  • LRG_293t1:c.1907C>G
  • LRG_293:g.22906C>G
  • LRG_293p1:p.Ser636Ter
  • NC_000013.10:g.32907522C>G
Nucleotide change:
2135C>G
Protein change:
S636*
Links:
dbSNP: rs431825288
NCBI 1000 Genomes Browser:
rs431825288
Molecular consequence:
  • NM_000059.3:c.1907C>G - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

Condition(s)

Name:
Breast-ovarian cancer, familial 2 (BROVCA2)
Synonyms:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2; BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2; Breast cancer, familial 2
Identifiers:
MONDO: MONDO:0012933; MedGen: C2675520; Orphanet: 145; OMIM: 612555

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000114967Sharing Clinical Reports Project (SCRP)no assertion criteria providedLikely pathogenic
(Jan 17, 2013)
germlineclinical testing

SCV000300478Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)reviewed by expert panel
Pathogenic
(Sep 8, 2016)
germlinecuration

ENIGMA BRCA1/2 Classification Criteria (2015)

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided1not providednot provided1not providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

Details of each submission

From Sharing Clinical Reports Project (SCRP), SCV000114967.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot provided1not providednot providednot providednot providednot providednot provided

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000300478.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Variant allele predicted to encode a truncated non-functional protein.

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

Last Updated: Apr 18, 2021

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