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NM_007294.4(BRCA1):c.5407_5414delGGTGTCCA (p.Gly1803fs) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 15, 2017
Review status:
3 stars out of maximum of 4 stars
reviewed by expert panel
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:
RCV000661004.2

Allele description [Variation Report for NM_007294.4(BRCA1):c.5407_5414delGGTGTCCA (p.Gly1803fs)]

NM_007294.4(BRCA1):c.5407_5414delGGTGTCCA (p.Gly1803fs)

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.5407_5414delGGTGTCCA (p.Gly1803fs)
HGVS:
  • NC_000017.11:g.43047696_43047703del
  • NG_005905.2:g.170281_170288del
  • NM_007294.4:c.5407_5414delGGTGTCCAMANE SELECT
  • NM_007297.4:c.5266_5273delGGTGTCCA
  • NM_007299.4:c.2021_2028del
  • NM_007300.4:c.5470_5477delGGTGTCCA
  • NP_009225.1:p.Gly1803fs
  • NP_009228.2:p.Gly1756fs
  • NP_009230.2:p.Gly674fs
  • NP_009231.2:p.Gly1824fs
  • LRG_292:g.170281_170288del
  • NC_000017.10:g.41199713_41199720del
  • NC_000017.10:g.41199713_41199720delTGGACACC
  • NM_007294.3:c.5407_5414delGGTGTCCA
  • NM_007300.3:c.5470_5477delGGTGTCCA
  • NR_027676.2:n.5584_5591delGGTGTCCA
  • p.(Gly1803ProfsTer24)
  • p.Gly1824ProfsX24
Protein change:
G1756fs
Links:
dbSNP: rs886040865
NCBI 1000 Genomes Browser:
rs886040865
Molecular consequence:
  • NM_007294.4:c.5407_5414delGGTGTCCA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007297.4:c.5266_5273delGGTGTCCA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007299.4:c.2021_2028del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007300.4:c.5470_5477delGGTGTCCA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_027676.2:n.5584_5591delGGTGTCCA - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Breast-ovarian cancer, familial, susceptibility to, 1 (BROVCA1)
Synonyms:
OVARIAN CANCER, SUSCEPTIBILITY TO; Breast cancer, familial 1
Identifiers:
MONDO: MONDO:0011450; MedGen: C2676676; Orphanet: 145; OMIM: 604370

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000783244Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) - ENIGMA
reviewed by expert panel

(ENIGMA BRCA1/2 Classification Criteria (2017-06-29))		Pathogenic
(Dec 15, 2017) 		germlinecuration

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

Details of each submission

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) - ENIGMA, SCV000783244.1

#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

Last Updated: Oct 8, 2024