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NM_007294.3(BRCA1):c.5179A>T (p.Lys1727Ter) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 13, 2016
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:
RCV000131827.3

Allele description

NM_007294.3(BRCA1):c.5179A>T (p.Lys1727Ter)

Gene:
BRCA1:BRCA1, DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.3(BRCA1):c.5179A>T (p.Lys1727Ter)
HGVS:
  • NC_000017.11:g.43063347T>A
  • NG_005905.2:g.154637A>T
  • NM_007294.3:c.5179A>T
  • NP_009225.1:p.Lys1727Ter
  • LRG_292t1:c.5179A>T
  • LRG_292:g.154637A>T
  • LRG_292p1:p.Lys1727Ter
  • NC_000017.10:g.41215364T>A
  • NR_027676.1:n.5315A>T
  • U14680.1:n.5298A>T
  • p.K1727*
Nucleotide change:
5298A>T
Protein change:
K1727*
Links:
dbSNP: rs80357347
NCBI 1000 Genomes Browser:
rs80357347
Molecular consequence:
  • NR_027676.1:n.5315A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_007294.3:c.5179A>T - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition
Identifiers:
MedGen: C0027672

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000186882Ambry Genetics
criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (10/2015))		Pathogenic
(Apr 13, 2016) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

Germline mutations of the BRCA1 gene in breast and ovarian cancer families provide evidence for a genotype-phenotype correlation.

Gayther SA, Warren W, Mazoyer S, Russell PA, Harrington PA, Chiano M, Seal S, Hamoudi R, van Rensburg EJ, Dunning AM, Love R, Evans G, Easton D, Clayton D, Stratton MR, Ponder BA.

Nat Genet. 1995 Dec;11(4):428-33.

PubMed [citation]
PMID:
7493024

Detection of BRCA1 and BRCA2 mutations in breast cancer families by a comprehensive two-stage screening procedure.

Spitzer E, Abbaszadegan MR, Schmidt F, Hauser A, Buwitt U, Lauter FR, Pötschick K, Krocker J, Elling D, Grosse R.

Int J Cancer. 2000 Feb 15;85(4):474-81.

PubMed [citation]
PMID:
10699917
See all PubMed Citations (4)

Details of each submission

From Ambry Genetics, SCV000186882.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (4)

Description

Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Oct 10, 2018