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NM_000059.4(BRCA2):c.3949A>T (p.Thr1317Ser) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 29, 2023
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:
RCV003736569.1

Allele description [Variation Report for NM_000059.4(BRCA2):c.3949A>T (p.Thr1317Ser)]

NM_000059.4(BRCA2):c.3949A>T (p.Thr1317Ser)

Gene:
BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q13.1
Genomic location:
Preferred name:
NM_000059.4(BRCA2):c.3949A>T (p.Thr1317Ser)
HGVS:
  • NC_000013.11:g.32338304A>T
  • NG_012772.3:g.27825A>T
  • NM_000059.4:c.3949A>TMANE SELECT
  • NP_000050.2:p.Thr1317Ser
  • NP_000050.3:p.Thr1317Ser
  • LRG_293t1:c.3949A>T
  • LRG_293:g.27825A>T
  • LRG_293p1:p.Thr1317Ser
  • NC_000013.10:g.32912441A>T
  • NM_000059.3:c.3949A>T
Nucleotide change:
4177A>T
Protein change:
T1317S
Links:
dbSNP: rs398122773
NCBI 1000 Genomes Browser:
rs398122773
Molecular consequence:
  • NM_000059.4:c.3949A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004563703ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2024)		Uncertain significance
(Nov 29, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV004563703.1

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

Description

The BRCA2 c.3949A>T; p.Thr1317Ser variant (rs398122773) is reported in the literature in two individuals with a personal or family history of breast and/or ovarian cancer (Caux-Moncoutier 2011). This variant is reported in ClinVar (Variation ID: 91810) and is absent from the Genome Aggregation Database (v2.1.1), indicating it is not a common polymorphism. Computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.206). Due to limited information, the clinical significance of this variant is uncertain at this time. References: Caux-Moncoutier V et al. EMMA, a cost- and time-effective diagnostic method for simultaneous detection of point mutations and large-scale genomic rearrangements: application to BRCA1 and BRCA2 in 1,525 patients. Hum Mutat. 2011 Mar;32(3):325-34. PMID: 21120943.

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

Last Updated: Sep 1, 2024