NM_007294.3(BRCA1):c.188T>A (p.Leu63Ter) AND Breast-ovarian cancer, familial 1

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (4 submissions)
Last evaluated:: Apr 22, 2016
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:: RCV000077499.5

Allele description

NM_007294.3(BRCA1):c.188T>A (p.Leu63Ter)

Gene:

BRCA1:BRCA1, DNA repair associated [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_007294.3(BRCA1):c.188T>A (p.Leu63Ter)

HGVS:

NC_000017.11:g.43106480A>T
NG_005905.2:g.111504T>A
NM_007294.3:c.188T>A
NP_009225.1:p.Leu63Ter
LRG_292t1:c.188T>A
LRG_292:g.111504T>A
LRG_292p1:p.Leu63Ter
NC_000017.10:g.41258497A>T
NR_027676.1:n.349T>A
U14680.1:n.307T>A
p.L63*

Nucleotide change:

307T>A

Protein change:

L63*

Links:

dbSNP: rs80357086

NCBI 1000 Genomes Browser:

rs80357086

Molecular consequence:

NR_027676.1:n.349T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_007294.3:c.188T>A - nonsense - [Sequence Ontology: SO:0001587]

Observations:

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000109298	Sharing Clinical Reports Project (SCRP)	no assertion criteria provided	Pathogenic (Sep 12, 2011)	germline	clinical testing
SCV000144592	Breast Cancer Information Core (BIC) (BRCA1)	no assertion criteria provided	Pathogenic (Feb 20, 2004)	germline	clinical testing
SCV000189882	Pathway Genomics	no assertion criteria provided	Pathogenic (Jul 24, 2014)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 23364291, 24312913, 24249303
SCV000282266	Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	reviewed by expert panel (ENIGMA BRCA1/2 Classification Criteria (2015))	Pathogenic (Apr 22, 2016)	germline	curation	ENIGMA BRCA1/2 Classification Criteria (2015) Citation Link

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	1	not provided	not provided	1	not provided	clinical testing
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing, curation
Asian	germline	yes	2	not provided	not provided	not provided	not provided	clinical testing
Asian, Pacific Islander	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
Asian, Philippine	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
Western European, Asian	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

BRCA1 and BRCA2 mutations in the ovarian cancer population across race and ethnicity: special reference to Asia.

Shanmughapriya S, Nachiappan V, Natarajaseenivasan K.

Oncology. 2013;84(4):226-32. doi: 10.1159/000346593. Epub 2013 Jan 29. Review.

PubMed [citation]

PMID:: 23364291

A comprehensive focus on global spectrum of BRCA1 and BRCA2 mutations in breast cancer.

Karami F, Mehdipour P.

Biomed Res Int. 2013;2013:928562. doi: 10.1155/2013/928562. Epub 2013 Nov 7. Review.

PubMed [citation]

PMID:: 24312913
PMCID:: PMC3838820

See all PubMed Citations (3)

Details of each submission

From Sharing Clinical Reports Project (SCRP), SCV000109298.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	1	not provided	not provided		not provided	not provided	not provided	not provided

From Breast Cancer Information Core (BIC) (BRCA1), SCV000144592.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided
2	Asian	2	not provided	not provided	clinical testing	not provided
3	Asian, Pacific Islander	1	not provided	not provided	clinical testing	not provided
4	Asian, Philippine	1	not provided	not provided	clinical testing	not provided
5	Western European, Asian	1	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
2	germline	yes	not provided	not provided	not provided		2	not provided	not provided	not provided
3	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
4	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
5	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

From Pathway Genomics, SCV000189882.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

Japanese founder mutation.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000282266.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	not provided

Description

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 10, 2016

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