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NM_000059.4(BRCA2):c.1640C>T (p.Ser547Leu) AND Breast-ovarian cancer, familial, susceptibility to, 2

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 29, 2001
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:
RCV000112946.10

Allele description [Variation Report for NM_000059.4(BRCA2):c.1640C>T (p.Ser547Leu)]

NM_000059.4(BRCA2):c.1640C>T (p.Ser547Leu)

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.1640C>T (p.Ser547Leu)
HGVS:
  • NC_000013.11:g.32333118C>T
  • NG_012772.3:g.22639C>T
  • NM_000059.4:c.1640C>TMANE SELECT
  • NP_000050.2:p.Ser547Leu
  • NP_000050.3:p.Ser547Leu
  • LRG_293t1:c.1640C>T
  • LRG_293:g.22639C>T
  • LRG_293p1:p.Ser547Leu
  • NC_000013.10:g.32907255C>T
  • NM_000059.3:c.1640C>T
  • U43746.1:n.1868C>T
Protein change:
S547L
Links:
dbSNP: rs80358449
NCBI 1000 Genomes Browser:
rs80358449
Molecular consequence:
  • NM_000059.4:c.1640C>T - 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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000145903Breast Cancer Information Core (BIC) (BRCA2)
no assertion criteria provided
Uncertain significance
(Oct 29, 2001) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Western Europeangermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA2), SCV000145903.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Western European1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Apr 15, 2024