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NM_000059.4(BRCA2):c.7050C>T (p.Thr2350=) AND Breast-ovarian cancer, familial, susceptibility to, 2

Germline classification:
Likely benign (2 submissions)
Last evaluated:
Jun 29, 2017
Review status:
3 stars out of maximum of 4 stars
reviewed by expert panel
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:
RCV000494900.4

Allele description [Variation Report for NM_000059.4(BRCA2):c.7050C>T (p.Thr2350=)]

NM_000059.4(BRCA2):c.7050C>T (p.Thr2350=)

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.7050C>T (p.Thr2350=)
Other names:
p.T2350T:ACC>ACT
HGVS:
  • NC_000013.11:g.32354903C>T
  • NG_012772.3:g.44424C>T
  • NM_000059.4:c.7050C>TMANE SELECT
  • NP_000050.2:p.Thr2350=
  • NP_000050.3:p.Thr2350=
  • LRG_293t1:c.7050C>T
  • LRG_293:g.44424C>T
  • LRG_293p1:p.Thr2350=
  • NC_000013.10:g.32929040C>T
  • NM_000059.3:c.7050C>T
  • p.T2350T
Links:
dbSNP: rs587780870
NCBI 1000 Genomes Browser:
rs587780870
Molecular consequence:
  • NM_000059.4:c.7050C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Breast-ovarian cancer, familial, susceptibility to, 2 (BROVCA2)
Synonyms:
Breast-ovarian cancer, familial 2
Identifiers:
MONDO: MONDO:0012933; MedGen: C2675520; Orphanet: 145; OMIM: 612555

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000578953Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
reviewed by expert panel

(ENIGMA BRCA1/2 Classification Criteria (2017-06-29))		Likely benign
(Jun 29, 2017) 		germlinecuration

Citation Link,

SCV001139170Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2017)		Likely benign
(May 28, 2019) 		unknownclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000578953.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Synonymous substitution variant, with low bioinformatic likelihood to result in a splicing aberration (Splicing prior probability 0.02; http://priors.hci.utah.edu/PRIORS/).

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

From Mendelics, SCV001139170.1

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

Last Updated: Mar 30, 2024