NM_007294.4(BRCA1):c.4675+1G>A AND multiple conditions

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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:: RCV001663924.1

Allele description

NM_007294.4(BRCA1):c.4675+1G>A

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.4675+1G>A

HGVS:

NC_000017.11:g.43074330C>T
NG_005905.2:g.143654G>A
NM_007294.3:c.4675+1G>A
NM_007294.4:c.4675+1G>AMANE SELECT
NM_007297.4:c.4534+1G>A
NM_007298.3:c.1363+1G>A
NM_007299.4:c.1363+1G>A
NM_007300.4:c.4738+1G>A
LRG_292t1:c.4675+1G>A
LRG_292:g.143654G>A
NC_000017.10:g.41226347C>T
NM_007294.4:c.4675+1G>A
NM_007300.3:c.4738+1G>A
U14680.1:n.4794+1G>A

Nucleotide change:

IVS15+1G>A

Links:

BRCA1-HCI: BRCA1_00127; Breast Cancer Information Core (BIC) (BRCA1): 4794+1&base_change=G to A; dbSNP: rs80358044

NCBI 1000 Genomes Browser:

rs80358044

Molecular consequence:

NM_007294.3:c.4675+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_007294.4:c.4675+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_007297.4:c.4534+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_007298.3:c.1363+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_007299.4:c.1363+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_007300.4:c.4738+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

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
SCV001877409	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 (3) [See all records that cite these PMIDs] 12491499, 21990134, 18951446 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001877409

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 (3)
[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

Pathologic characteristics of breast parenchyma in patients with hereditary breast carcinoma, including BRCA1 and BRCA2 mutation carriers.

Adem C, Reynolds C, Soderberg CL, Slezak JM, McDonnell SK, Sebo TJ, Schaid DJ, Myers JL, Sellers TA, Hartmann LC, Jenkins RB.

Cancer. 2003 Jan 1;97(1):1-11.

PubMed [citation]

PMID:: 12491499

A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).

Lindor NM, Guidugli L, Wang X, Vallée MP, Monteiro AN, Tavtigian S, Goldgar DE, Couch FJ.

Hum Mutat. 2012 Jan;33(1):8-21. doi: 10.1002/humu.21627. Epub 2011 Nov 3. Review.

PubMed [citation]

PMID:: 21990134
PMCID:: PMC3242438

See all PubMed Citations (3)

Details of each submission

From Research and Development, ARUP Laboratories, SCV001877409.1

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

#	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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