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NM_007294.4(BRCA1):c.457_458del (p.Ser153fs) AND Breast-ovarian cancer, familial 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:
RCV000660985.1

Allele description

NM_007294.4(BRCA1):c.457_458del (p.Ser153fs)

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.457_458del (p.Ser153fs)
HGVS:
  • NC_000017.11:g.43099864_43099865del
  • NG_005905.2:g.118119_118120del
  • NM_007294.4:c.457_458delMANE SELECT
  • NM_007297.4:c.316_317del
  • NM_007298.3:c.457_458del
  • NM_007299.4:c.457_458del
  • NM_007300.4:c.457_458del
  • NP_009225.1:p.Ser153fs
  • NP_009228.2:p.Ser106fs
  • NP_009229.2:p.Ser153fs
  • NP_009230.2:p.Ser153fs
  • NP_009231.2:p.Ser153fs
  • LRG_292:g.118119_118120del
  • NC_000017.10:g.41251881_41251882del
  • NM_007294.3:c.457_458delAG
  • NR_027676.2:n.634_635del
  • p.(Ser153CysfsTer5)
Protein change:
S106fs
Links:
dbSNP: rs397509185
NCBI 1000 Genomes Browser:
rs397509185
Molecular consequence:
  • NM_007294.4:c.457_458del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007297.4:c.316_317del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007298.3:c.457_458del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007299.4:c.457_458del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007300.4:c.457_458del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_027676.2:n.634_635del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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:
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
SCV000783225Evidence-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, SCV000783225.1

#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: Feb 25, 2021