NM_007294.3(BRCA1):c.5075-1G>A AND not provided

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

Clinical significance:Pathogenic (Last evaluated: Feb 16, 2015)
Review status:1 star out of maximum of 4 stars
criteria provided, single submitter

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Based on:: 1 submission [Details]
Record status:: current
Accession:: RCV000480623.1

Allele description

NM_007294.3(BRCA1):c.5075-1G>A

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_007294.3(BRCA1):c.5075-1G>A

Other names:

IVS17-1G>A

HGVS:

NC_000017.11:g.43063952C>T
NG_005905.2:g.154032G>A
NM_007294.3:c.5075-1G>A
LRG_292t1:c.5075-1G>A
LRG_292:g.154032G>A
NC_000017.10:g.41215969C>T
U14680.1:n.5194-1G>A

Links:

Breast Cancer Information Core (BIC) (BRCA1): 5194-1&base_change=G to A; dbSNP: rs1800747

NCBI 1000 Genomes Browser:

rs1800747

Molecular consequence:

NM_007294.3:c.5075-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000564746	GeneDx	criteria provided, single submitter GeneDx Variant Classification (06012015)	Pathogenic (Feb 16, 2015)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000564746

GeneDx

criteria provided, single submitter

GeneDx Variant Classification (06012015)

Pathogenic
(Feb 16, 2015)

germline

clinical testing

Citation Link

Summary from all submissions

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Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000564746.2

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

Description

This pathogenic variant is denoted BRCA1 c.5075-1 G>A or IVS16-1 G>A and consists of a G>A nucleotide substitution at the -1 position of intron 16 of the BRCA1 gene. The variant destroys a canonical splice acceptor site and is predicted to cause abnormal gene splicing, leading to either an abnormal message that is subject to nonsense-mediated mRNA decay or to an abnormal protein product. This variant, also known as BRCA1 c.5194-1G>A using alternate nomenclature, has been reported to be pathogenic in association with hereditary breast cancer (Jara 2006). We therefore consider this variant to be pathogenic.

#	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		not provided	not provided	not provided	not provided

Last Updated: Mar 31, 2019

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