NM_000059.3(BRCA2):c.6308C>A (p.Ser2103Ter) AND not provided

Clinical significance:Pathogenic (Last evaluated: Nov 3, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000217398.1

Allele description

NM_000059.3(BRCA2):c.6308C>A (p.Ser2103Ter)

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.6308C>A (p.Ser2103Ter)
HGVS:
  • NC_000013.11:g.32340663C>A
  • NG_012772.3:g.30184C>A
  • NM_000059.3:c.6308C>A
  • NP_000050.2:p.Ser2103Ter
  • LRG_293t1:c.6308C>A
  • LRG_293:g.30184C>A
  • LRG_293p1:p.Ser2103Ter
  • NC_000013.10:g.32914800C>A
  • U43746.1:n.6536C>A
Protein change:
S2103*
Links:
dbSNP: rs80358870
NCBI 1000 Genomes Browser:
rs80358870
Molecular consequence:
  • NM_000059.3:c.6308C>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000278867GeneDxcriteria provided, single submitter
Pathogenic
(Nov 3, 2015)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000278867.8

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

Description

This pathogenic variant is denoted BRCA2 c.6308C>A at the cDNA level and p.Ser2103Ter (S2103X) at the protein level. Using alternate nomenclature, this variant would be defined as BRCA2 6536C>A. The substitution creates a nonsense variant, which changes a Serine to a premature stop codon (TCA>TAA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant has been reported in at least one family with Hereditary Breast and Ovarian Cancer (Tea 2014) and is considered pathogenic.

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

Last Updated: Dec 15, 2019

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