U.S. flag

An official website of the United States government

NM_000059.4(BRCA2):c.7916C>T (p.Pro2639Leu) AND Malignant tumor of breast

Germline classification:
Uncertain significance (1 submission)
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:
RCV001353687.2

Allele description [Variation Report for NM_000059.4(BRCA2):c.7916C>T (p.Pro2639Leu)]

NM_000059.4(BRCA2):c.7916C>T (p.Pro2639Leu)

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.7916C>T (p.Pro2639Leu)
HGVS:
  • NC_000013.11:g.32362633C>T
  • NG_012772.3:g.52154C>T
  • NM_000059.4:c.7916C>TMANE SELECT
  • NP_000050.2:p.Pro2639Leu
  • NP_000050.3:p.Pro2639Leu
  • LRG_293t1:c.7916C>T
  • LRG_293:g.52154C>T
  • LRG_293p1:p.Pro2639Leu
  • NC_000013.10:g.32936770C>T
  • NM_000059.3:c.7916C>T
Nucleotide change:
8144C>T
Protein change:
P2639L
Links:
dbSNP: rs774723315
NCBI 1000 Genomes Browser:
rs774723315
Molecular consequence:
  • NM_000059.4:c.7916C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Malignant tumor of breast
Synonyms:
Malignant breast neoplasm; Cancer breast
Identifiers:
MONDO: MONDO:0007254; MedGen: C0006142

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
SCV000592158Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR)

See additional submitters

no assertion criteria provided
Uncertain significanceunknownclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR), SCV000592158.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The p.Pro2639Leu variant was not identified in the literature nor was it identified in the dbSNP, NHLBI Exome Sequencing Project (Exome Variant Server), HGMD, LOVD, COSMIC, ClinVar, or BIC databases. The variant was identified in UMD in one sample (as an unclassified variant); this sample had a co-occurring pathogenic BRCA2 variant (c.5645C>A (p.Ser1882X)), increasing the likelihood that the p.Pro2639Leu variant does not have clinical significance. The p.Pro2639 residue is conserved across mammals and lower organisms, and computational analyses (PolyPhen-2, SIFT, AlignGVGD, BLOSUM, MutationTaster) suggest that the p.Pro2639Leu variant may impact the protein. However, this information is not predictive enough to assume pathogenicity. In summary, based on the above information, the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of unknown significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024