U.S. flag

An official website of the United States government

NM_000059.4(BRCA2):c.3413A>T (p.Gln1138Leu) AND Breast-ovarian cancer, familial, susceptibility to, 2

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 20, 2004
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000113173.2

Allele description [Variation Report for NM_000059.4(BRCA2):c.3413A>T (p.Gln1138Leu)]

NM_000059.4(BRCA2):c.3413A>T (p.Gln1138Leu)

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.3413A>T (p.Gln1138Leu)
HGVS:
  • NC_000013.11:g.32337768A>T
  • NG_012772.3:g.27289A>T
  • NM_000059.4:c.3413A>TMANE SELECT
  • NP_000050.2:p.Gln1138Leu
  • NP_000050.3:p.Gln1138Leu
  • LRG_293t1:c.3413A>T
  • LRG_293:g.27289A>T
  • LRG_293p1:p.Gln1138Leu
  • NC_000013.10:g.32911905A>T
  • NM_000059.3:c.3413A>T
  • U43746.1:n.3641A>T
Protein change:
Q1138L
Links:
dbSNP: rs80358584
NCBI 1000 Genomes Browser:
rs80358584
Molecular consequence:
  • NM_000059.4:c.3413A>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000146228Breast Cancer Information Core (BIC) (BRCA2)
no assertion criteria provided
Uncertain significance
(Feb 20, 2004) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing
Western Europeangermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA2), SCV000146228.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
2Western European1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided
2germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024