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NP_009225.1(BRCA1):p.Ser955Ter AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 26, 2008
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000239269.2

Allele description [Variation Report for NP_009225.1(BRCA1):p.Ser955Ter]

NP_009225.1(BRCA1):p.Ser955Ter

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
protein only
Cytogenetic location:
17q21.31
Preferred name:
NP_009225.1(BRCA1):p.Ser955Ter
Other names:
S955X
Observations:
1

Condition(s)

Name:
Breast-ovarian cancer, familial, susceptibility to, 1 (BROVCA1)
Synonyms:
OVARIAN CANCER, SUSCEPTIBILITY TO; Breast-ovarian cancer, familial 1; 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
SCV000297500Sharing Clinical Reports Project (SCRP)
no assertion criteria provided
Pathogenic
(Feb 26, 2008) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided1not providednot provided1not providedclinical testing

Details of each submission

From Sharing Clinical Reports Project (SCRP), SCV000297500.1

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

Last Updated: Mar 30, 2024