NM_000059.4(BRCA2):c.2145A>G (p.Gly715=) AND not specified

Clinical significance:Benign/Likely benign (Last evaluated: May 29, 2018)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000160214.2

Allele description [Variation Report for NM_000059.4(BRCA2):c.2145A>G (p.Gly715=)]

NM_000059.4(BRCA2):c.2145A>G (p.Gly715=)

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.2145A>G (p.Gly715=)
Other names:
p.G715G:GGA>GGG
HGVS:
  • NC_000013.11:g.32336500A>G
  • NG_012772.3:g.26021A>G
  • NM_000059.3:c.2145A>G
  • NM_000059.4:c.2145A>GMANE SELECT
  • NP_000050.2:p.Gly715=
  • NP_000050.3:p.Gly715=
  • LRG_293t1:c.2145A>G
  • LRG_293:g.26021A>G
  • LRG_293p1:p.Gly715=
  • NC_000013.10:g.32910637A>G
  • p.G715G
  • p.Gly715Gly
Links:
dbSNP: rs112566179
NCBI 1000 Genomes Browser:
rs112566179
Molecular consequence:
  • NM_000059.3:c.2145A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_000059.4:c.2145A>G - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
2

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
SCV000210575GeneDxcriteria provided, single submitter
Benign
(Jun 22, 2014)
germlineclinical testing

Citation Link,

SCV000600502Quest Diagnostics Nichols Institute San Juan Capistranocriteria provided, single submitter
Likely benign
(Apr 27, 2017)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

SCV000861269EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Likely benign
(May 29, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown2not providednot providednot providednot providedclinical testing

Citations

PubMed

High prevalence of BRCA1 and BRCA2 mutations in unselected Nigerian breast cancer patients.

Fackenthal JD, Zhang J, Zhang B, Zheng Y, Hagos F, Burrill DR, Niu Q, Huo D, Sveen WE, Ogundiran T, Adebamowo C, Odetunde A, Falusi AG, Olopade OI.

Int J Cancer. 2012 Sep 1;131(5):1114-23. doi: 10.1002/ijc.27326. Epub 2012 Jan 27.

PubMed [citation]
PMID:
22034289

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From GeneDx, SCV000210575.10

#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 Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000600502.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000861269.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided2not providednot providednot provided

Last Updated: Nov 27, 2021

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