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NM_007294.3(BRCA1):c.1961delA (p.Lys654Serfs) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Apr 3, 2017
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000130764.5

Allele description

NM_007294.3(BRCA1):c.1961delA (p.Lys654Serfs)

Gene:
BRCA1:BRCA1, DNA repair associated [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.3(BRCA1):c.1961delA (p.Lys654Serfs)
HGVS:
  • NC_000017.11:g.43093570delT
  • NG_005905.2:g.124414delA
  • NM_007294.3:c.1961delA
  • NM_007298.3:c.787+1174delA
  • NM_007300.3:c.1961delA
  • NP_009225.1:p.Lys654Serfs
  • NP_009231.2:p.Lys654Serfs
  • LRG_292t1:c.1961delA
  • LRG_292:g.124414delA
  • LRG_292p1:p.Lys654Serfs
  • NC_000017.10:g.41245587delT
  • NM_007294.3:c.1961_1961delA
  • NM_007294.3:c.1961del
  • NR_027676.1:n.2097delA
  • U14680.1:n.2080delA
  • p.K654SFS*47
  • p.Lys654Serfs*47
  • p.Lys654SerfsX47
Nucleotide change:
2080delA
Links:
Breast Cancer Information Core (BIC) (BRCA1): 2080&base_change=del A; dbSNP: rs80357522
NCBI 1000 Genomes Browser:
rs80357522
Allele Frequency:
0.00001(-)
Molecular consequence:
  • NM_007294.3:c.1961delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007298.3:c.787+1174delA - intron variant - [Sequence Ontology: SO:0001627]
  • NR_027676.1:n.2097delA - non-coding transcript variant - [Sequence Ontology: SO:0001619]
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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000185656Ambry Genetics
criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (3/2017))
Pathogenic
(Mar 27, 2017)
germlineclinical testing

PubMed (6)
[See all records that cite these PMIDs]

Citation Link,

SCV000688356Color
criteria provided, single submitter

(ACMG Guidelines, 2015)
Pathogenic
(Apr 3, 2017)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

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

Nonequivalent gene expression and copy number alterations in high-grade serous ovarian cancers with BRCA1 and BRCA2 mutations.

George J, Alsop K, Etemadmoghadam D, Hondow H, Mikeska T, Dobrovic A, deFazio A; Australian Ovarian Cancer Study Group., Smyth GK, Levine DA, Mitchell G, Bowtell DD.

Clin Cancer Res. 2013 Jul 1;19(13):3474-84. doi: 10.1158/1078-0432.CCR-13-0066. Epub 2013 Apr 30.

PubMed [citation]
PMID:
23633455
See all PubMed Citations (7)

Details of each submission

From Ambry Genetics, SCV000185656.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (6)

Description

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

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

From Color, SCV000688356.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 10, 2018