NM_000059.4(BRCA2):c.3417G>A (p.Lys1139=) AND not specified

Clinical significance:Benign/Likely benign (Last evaluated: Nov 27, 2019)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000123962.6

Allele description [Variation Report for NM_000059.4(BRCA2):c.3417G>A (p.Lys1139=)]

NM_000059.4(BRCA2):c.3417G>A (p.Lys1139=)

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.3417G>A (p.Lys1139=)
Other names:
p.K1139K:AAG>AAA
HGVS:
  • NC_000013.11:g.32337772G>A
  • NG_012772.3:g.27293G>A
  • NM_000059.4:c.3417G>AMANE SELECT
  • NP_000050.2:p.Lys1139=
  • NP_000050.3:p.Lys1139=
  • LRG_293t1:c.3417G>A
  • LRG_293:g.27293G>A
  • LRG_293p1:p.Lys1139=
  • NC_000013.10:g.32911909G>A
  • NM_000059.3:c.3417G>A
  • p.K1139K
  • p.Lys1139Lys
Links:
dbSNP: rs145625991
NCBI 1000 Genomes Browser:
rs145625991
Molecular consequence:
  • NM_000059.4:c.3417G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000167354GeneDxcriteria provided, single submitter
Benign
(Feb 7, 2014)
germlineclinical testing

Citation Link,

SCV000916995Women's Health and Genetics/Laboratory Corporation of America, LabCorpcriteria provided, single submitter
Likely benign
(Nov 27, 2019)
germlineclinical testing

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

Citation Link

Summary from all submissions

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

Citations

PubMed

Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study.

Borg A, Haile RW, Malone KE, Capanu M, Diep A, Törngren T, Teraoka S, Begg CB, Thomas DC, Concannon P, Mellemkjaer L, Bernstein L, Tellhed L, Xue S, Olson ER, Liang X, Dolle J, Børresen-Dale AL, Bernstein JL.

Hum Mutat. 2010 Mar;31(3):E1200-40. doi: 10.1002/humu.21202.

PubMed [citation]
PMID:
20104584
PMCID:
PMC2928257

Details of each submission

From GeneDx, SCV000167354.11

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000916995.2

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

Last Updated: Dec 4, 2021

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