U.S. flag

An official website of the United States government

NM_000059.4(BRCA2):c.6423T>G (p.Gly2141=) AND not specified

Clinical significance:Conflicting interpretations of pathogenicity, Uncertain significance(1); Likely benign(1) (Last evaluated: Jan 31, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000502553.7

Allele description [Variation Report for NM_000059.4(BRCA2):c.6423T>G (p.Gly2141=)]

NM_000059.4(BRCA2):c.6423T>G (p.Gly2141=)

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.6423T>G (p.Gly2141=)
HGVS:
  • NC_000013.11:g.32340778T>G
  • NG_012772.3:g.30299T>G
  • NM_000059.4:c.6423T>GMANE SELECT
  • NP_000050.2:p.Gly2141=
  • NP_000050.3:p.Gly2141=
  • LRG_293t1:c.6423T>G
  • LRG_293:g.30299T>G
  • LRG_293p1:p.Gly2141=
  • NC_000013.10:g.32914915T>G
  • NM_000059.3:c.6423T>G
Links:
dbSNP: rs780721021
NCBI 1000 Genomes Browser:
rs780721021
Molecular consequence:
  • NM_000059.4:c.6423T>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000593751Genetic Services Laboratory,University of Chicagocriteria provided, single submitter
Uncertain significance
(Oct 23, 2015)
germlineclinical testing

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

SCV001361754Women's Health and Genetics/Laboratory Corporation of America, LabCorpcriteria provided, single submitter
Likely benign
(Jan 31, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Genetic Services Laboratory,University of Chicago, SCV000593751.1

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

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001361754.1

#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 29, 2022

Support Center