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NM_000059.4(BRCA2):c.3767A>C (p.His1256Pro) AND Breast-ovarian cancer, familial, susceptibility to, 2

Germline classification:
Likely benign (2 submissions)
Last evaluated:
May 28, 2019
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000113216.4

Allele description [Variation Report for NM_000059.4(BRCA2):c.3767A>C (p.His1256Pro)]

NM_000059.4(BRCA2):c.3767A>C (p.His1256Pro)

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.3767A>C (p.His1256Pro)
HGVS:
  • NC_000013.11:g.32338122A>C
  • NG_012772.3:g.27643A>C
  • NM_000059.4:c.3767A>CMANE SELECT
  • NP_000050.2:p.His1256Pro
  • NP_000050.3:p.His1256Pro
  • LRG_293t1:c.3767A>C
  • LRG_293:g.27643A>C
  • LRG_293p1:p.His1256Pro
  • NC_000013.10:g.32912259A>C
  • NM_000059.3:c.3767A>C
  • U43746.1:n.3995A>C
Protein change:
H1256P
Links:
dbSNP: rs80358618
NCBI 1000 Genomes Browser:
rs80358618
Molecular consequence:
  • NM_000059.4:c.3767A>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000146294Breast Cancer Information Core (BIC) (BRCA2)
no assertion criteria provided
Uncertain significance
(May 29, 2002) 		germlineclinical testing

SCV001139071Mendelics
criteria provided, single submitter

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

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA2), SCV000146294.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

From Mendelics, SCV001139071.1

#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: Sep 29, 2024