U.S. flag

An official website of the United States government

NM_000059.4(BRCA2):c.10202C>T (p.Thr3401Met) AND not specified

Germline classification:
Conflicting classifications of pathogenicity (3 submissions)
Last evaluated:
Apr 7, 2017
Review status:
criteria provided, conflicting classifications
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:
RCV000435257.2

Allele description

NM_000059.4(BRCA2):c.10202C>T (p.Thr3401Met)

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.10202C>T (p.Thr3401Met)
HGVS:
  • NC_000013.11:g.32398715C>T
  • NG_012772.3:g.88236C>T
  • NM_000059.3:c.10202C>T
  • NM_000059.4:c.10202C>T
  • NP_000050.2:p.Thr3401Met
  • NP_000050.3:p.Thr3401Met
  • LRG_293t1:c.10202C>T
  • LRG_293:g.88236C>T
  • NC_000013.10:g.32972852C>T
  • U43746.1:n.10430C>T
  • p.T3401M
Nucleotide change:
10430C>T
Protein change:
T3401M
Links:
dbSNP: rs55853199
NCBI 1000 Genomes Browser:
rs55853199
Molecular consequence:
  • NM_000059.3:c.10202C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000059.4:c.10202C>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000512406GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))
Likely benign
(Apr 7, 2017)
germlineclinical testing

Citation Link,

SCV000538500Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
criteria provided, single submitter

(LMM Criteria)
Uncertain significance
(Jun 23, 2016)
germlineclinical testing

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

SCV000600455Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest pathogenicity assessment criteria)
Uncertain significance
(Nov 5, 2016)
germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

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

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Identification of Medically Actionable Secondary Findings in the 1000 Genomes.

Olfson E, Cottrell CE, Davidson NO, Gurnett CA, Heusel JW, Stitziel NO, Chen LS, Hartz S, Nagarajan R, Saccone NL, Bierut LJ.

PLoS One. 2015;10(9):e0135193. doi: 10.1371/journal.pone.0135193.

PubMed [citation]
PMID:
26332594
PMCID:
PMC4558085
See all PubMed Citations (5)

Details of each submission

From GeneDx, SCV000512406.4

#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 Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000538500.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: ClinVar: 2 LB, 2 VUS, reported in 1 proband

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

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000600455.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 13, 2020