NM_007294.3(BRCA1):c.2063_2066delCAAG (p.Thr688Ilefs) AND Breast-ovarian cancer, familial 1

Clinical significance:Pathogenic (Last evaluated: Oct 18, 2016)

Review status:3 stars out of maximum of 4 stars

reviewed by expert panel

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000257753.2

Allele description

NM_007294.3(BRCA1):c.2063_2066delCAAG (p.Thr688Ilefs)

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.2063_2066delCAAG (p.Thr688Ilefs)
Other names:
2182del4-ter699
HGVS:
  • NC_000017.11:g.43093465_43093468delCTTG
  • NG_005905.2:g.124516_124519delCAAG
  • NM_007294.3:c.2063_2066delCAAG
  • NM_007298.3:c.787+1276_787+1279delCAAG
  • NP_009225.1:p.Thr688Ilefs
  • LRG_292t1:c.2063_2066delCAAG
  • LRG_292:g.124516_124519delCAAG
  • LRG_292p1:p.Thr688Ilefs
  • NC_000017.10:g.41245482_41245485delCTTG
  • NM_007294.3:c.2063_2066del
  • NR_027676.1:n.2199_2202delCAAG
  • p.Thr688fs
Links:
dbSNP: rs397508935
NCBI 1000 Genomes Browser:
rs397508935
Molecular consequence:
  • NM_007294.3:c.2063_2066delCAAG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007298.3:c.787+1276_787+1279delCAAG - intron variant - [Sequence Ontology: SO:0001627]
  • NR_027676.1:n.2199_2202delCAAG - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

Condition(s)

Name:
Breast-ovarian cancer, familial 1 (BROVCA1)
Synonyms:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1; OVARIAN CANCER, SUSCEPTIBILITY TO; BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1; See all synonyms [MedGen]
Identifiers:
MedGen: C2676676; Orphanet: 145; OMIM: 604370
Age of onset:
All ages
Prevalence:
  • 1-9 / 100 000 Orphanet: 145
  • Hereditary breast and ovarian cancer (HBOC) resulting from mutations in BRCA1 and BRCA2 is the most common form of both hereditary breast and ovarian cancers and occurs in all ethnic and racial populations. The overall prevalence of BRCA1/2 mutations is estimated to be from 1:400 to 1:800 [Ford et al 1994, Claus et al 1996, Whittemore et al 1997], but varies depending on ethnicity. https://www.ncbi.nlm.nih.gov/books/NBK1247

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000323388Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)reviewed by expert panel
Pathogenic
(Oct 18, 2016)
germlinecuration

Citation Link,

SCV000325220Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridgecriteria provided, single submitter
Pathogenic
(Oct 2, 2015)
germlineclinical testing

CIMBA_Mutation_Classification_guidelines_May16.pdf

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot provided1not providednot providednot providedclinical testing, curation

Details of each submission

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000323388.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Variant allele predicted to encode a truncated non-functional protein.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge, SCV000325220.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot provided1not provided

Last Updated: Mar 18, 2017