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BRCA1:c.3648dupA (p.Ser1217Ilefs) AND Familial cancer of breast

Clinical significance:Pathogenic

Review status:(1/4)1 star out of maximum of 4 stars

classified by single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000074584.2

Allele description [Variation Report for BRCA1:c.3648dupA (p.Ser1217Ilefs)]

Gene:
BRCA1:breast cancer 1, early onset [Gene - OMIM]
Variant type:
Duplication
Cytogenetic location:
17q21.3
Genomic location:
Chr17:41243899 - 41243900 (on Assembly GRCh37)
Preferred name:
BRCA1:c.3648dupA (p.Ser1217Ilefs)
HGVS:
  • NC_000017.10:g.41243900dupT
  • NG_005905.2:g.126101dupA
  • NM_007294.3:c.3648dupA
  • NP_009225.1:p.Ser1217Ilefs
  • LRG_292t1:c.3648dupA
  • LRG_292:g.126101dupA
  • LRG_292p1:p.Ser1217Ilefs
  • p.Ser1217IlefsX2
Links:
dbSNP: 80357902
NCBI 1000 Genomes Browser:
rs80357902

Condition(s)

Name:
Familial cancer of breast
Synonyms:
Familial cancer of breast
Identifiers:
GeneReviews: NBK1247; MedGen: C0346153; OMIM: 114480

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Assertion and evidence details

Submission AccessionSubmitterReview StatusClinical Significance
(Last evaluated)
OriginMethodConsequenceCitations
SCV000108669GeneDxclassified by single submitterPathogenicgermlineclinical testing

SCV000076283Invitae Inc.classified by single submitternot providedgermlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedAlleles observedFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedliterature only
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Germline BRCA1 mutations in patients from 84 families with breast and/or ovarian cancers in northern France.

Peyrat JP, Vennin P, Hornez L, Fournier J, Adenis C, Bonneterre J.

Eur J Cancer Prev. 1998 Feb;7 Suppl 1:S7-12.

PubMed [citation]
PMID:
10866029

Details of each submission

From GeneDx, SCV000108669.1

#EthnicityAlleles ObservedChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Predicted to cause loss of normal protein function; Reported in association with breast and/or ovarian cancer (Peyrat 1998)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodVariant allelesAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Invitae Inc., SCV000076283.2

#EthnicityAlleles ObservedChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodVariant allelesAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 5, 2014

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