NM_007294.4(BRCA1):c.3403C>T (p.Gln1135Ter) AND not provided

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

Clinical significance:Pathogenic (Last evaluated: Mar 28, 2018)
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:: RCV000236027.2

Allele description

NM_007294.4(BRCA1):c.3403C>T (p.Gln1135Ter)

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.3403C>T (p.Gln1135Ter)

HGVS:

NC_000017.11:g.43092128G>A
NG_005905.2:g.125856C>T
NM_007294.4:c.3403C>TMANE SELECT
NM_007297.4:c.3262C>T
NM_007299.4:c.788-1096C>T
NM_007300.4:c.3403C>T
NP_009225.1:p.Gln1135Ter
NP_009225.1:p.Gln1135Ter
NP_009228.2:p.Gln1088Ter
NP_009231.2:p.Gln1135Ter
LRG_292t1:c.3403C>T
LRG_292:g.125856C>T
LRG_292p1:p.Gln1135Ter
NC_000017.10:g.41244145G>A
NM_007294.3:c.3403C>T
NM_007298.3:c.788-1096C>T
NR_027676.2:n.3580C>T
U14680.1:n.3522C>T

Nucleotide change:

3522C>T

Protein change:

Q1088*

Links:

dbSNP: rs80357136

NCBI 1000 Genomes Browser:

rs80357136

Molecular consequence:

NM_007299.4:c.788-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NR_027676.2:n.3580C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_007294.4:c.3403C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_007297.4:c.3262C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_007300.4:c.3403C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000292936	GeneDx	criteria provided, single submitter GeneDx Variant Classification (06012015)	Pathogenic (Mar 28, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000292936

GeneDx

criteria provided, single submitter

GeneDx Variant Classification (06012015)

Pathogenic
(Mar 28, 2018)

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, SCV000292936.11

#	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.3403C>T at the cDNA level and p.Gln1135Ter (Q1135X) at the protein level. Using alternate nomenclature, this variant would be defined as BRCA1 3522C>T. The substitution creates a nonsense variant, which changes a Glutamine to a premature stop codon (CAG>TAG), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant has been reported in association with hereditary breast and ovarian cancer (Judkins 2005, Caux-Moncoutier 2011, Gutierrez Espeleta 2012, Kanchi 2014, Maxwell 2017). We consider it 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: Jun 18, 2022

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