NM_007294.4(BRCA1):c.594-2A>C AND multiple conditions

delete

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 1, 2013
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV001659911.1

Allele description

NM_007294.4(BRCA1):c.594-2A>C

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_007294.4(BRCA1):c.594-2A>C

HGVS:

NC_000017.11:g.43095924T>G
NG_005905.2:g.122060A>C
NM_007294.3:c.594-2A>C
NM_007294.4:c.594-2A>CMANE SELECT
NM_007297.4:c.453-2A>C
NM_007298.3:c.594-2A>C
NM_007299.4:c.594-2A>C
NM_007300.4:c.594-2A>C
LRG_292t1:c.594-2A>C
LRG_292:g.122060A>C
NC_000017.10:g.41247941T>G
NM_007294.4:c.594-2A>C
U14680.1:n.713-2A>C

Nucleotide change:

IVS9-2A>C

Links:

Breast Cancer Information Core (BIC) (BRCA1): 713-2&base_change=A to C; dbSNP: rs80358033

NCBI 1000 Genomes Browser:

rs80358033

Molecular consequence:

NM_007294.3:c.594-2A>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_007294.4:c.594-2A>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_007297.4:c.453-2A>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_007298.3:c.594-2A>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_007299.4:c.594-2A>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_007300.4:c.594-2A>C - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:: Breast-ovarian cancer, familial 2 (BROVCA2)
Synonyms:: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2; BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2; Breast cancer, familial 2
Identifiers:: MONDO: MONDO:0012933; MedGen: C2675520; Orphanet: 145; OMIM: 612555

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

Name:: Hereditary breast and ovarian cancer syndrome (HBOC)
Synonyms:: Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC)
Identifiers:: MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145; OMIM: PS604370

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001877372	Research and Development, ARUP Laboratories	criteria provided, single submitter (Plon et al Hum Mutat 2008 29:1282-91 Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results)	Pathogenic (Dec 1, 2013)	germline	curation	PubMed (2) [See all records that cite these PMIDs] 12601471, 18951446 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001877372

Research and Development, ARUP Laboratories

criteria provided, single submitter

(Plon et al Hum Mutat 2008 29:1282-91 Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results)

Pathogenic
(Dec 1, 2013)

germline

curation

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	curation

Citations

PubMed

Average age-specific cumulative risk of breast cancer according to type and site of germline mutations in BRCA1 and BRCA2 estimated from multiple-case breast cancer families attending Australian family cancer clinics.

Scott CL, Jenkins MA, Southey MC, Davis TA, Leary JA, Easton DF, Phillips KA, Hopper JL.

Hum Genet. 2003 May;112(5-6):542-51. Epub 2003 Feb 25.

PubMed [citation]

PMID:: 12601471

Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results.

Plon SE, Eccles DM, Easton D, Foulkes WD, Genuardi M, Greenblatt MS, Hogervorst FB, Hoogerbrugge N, Spurdle AB, Tavtigian SV; IARC Unclassified Genetic Variants Working Group..

Hum Mutat. 2008 Nov;29(11):1282-91. doi: 10.1002/humu.20880.

PubMed [citation]

PMID:: 18951446
PMCID:: PMC3075918

Details of each submission

From Research and Development, ARUP Laboratories, SCV001877372.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	PubMed (2)

#	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: Nov 11, 2021

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Relating variation to medicine