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

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 28, 2018
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:
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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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000292936GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))
Pathogenic
(Mar 28, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000292936.11

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot 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.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 18, 2022