NM_007294.4(BRCA1):c.3403C>T (p.Gln1135Ter) AND Hereditary cancer-predisposing syndrome

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

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Dec 1, 2017
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000574138.2

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_007294.3:c.3403C>T
NM_007294.4:c.3403C>T
NM_007297.4:c.3262C>T
NM_007298.3:c.788-1096C>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
NC_000017.10:g.41244145G>A
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_007298.3:c.788-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
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_007294.3:c.3403C>T - nonsense - [Sequence Ontology: SO:0001587]
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]

Observations:

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition
Identifiers:: MONDO: MONDO:0015356; MedGen: C0027672

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000673014	Ambry Genetics	criteria provided, single submitter (Ambry Autosomal Dominant and X-Linked criteria (3/2017))	Pathogenic (Dec 1, 2017)	germline	clinical testing	PubMed (6) [See all records that cite these PMIDs] 10644434, 21895635, 24448499, 26689913, 21120943, 19826428 Citation Link,
SCV000688435	Color	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Aug 4, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000673014

Ambry Genetics

criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (3/2017))

Pathogenic
(Dec 1, 2017)

germline

clinical testing

PubMed (6)
[See all records that cite these PMIDs]

Citation Link,

SCV000688435

Color

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Aug 4, 2017)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	1	not provided	clinical testing

Citations

PubMed

Denaturing high-performance liquid chromatography detects reliably BRCA1 and BRCA2 mutations.

Wagner T, Stoppa-Lyonnet D, Fleischmann E, Muhr D, Pagès S, Sandberg T, Caux V, Moeslinger R, Langbauer G, Borg A, Oefner P.

Genomics. 1999 Dec 15;62(3):369-76.

PubMed [citation]

PMID:: 10644434

BRCA1 and BRCA2 mutations among familial breast cancer patients from Costa Rica.

Gutiérrez Espeleta GA, Llacuachaqui M, García-Jiménez L, Aguilar Herrera M, Loáiciga Vega K, Ortiz A, Royer R, Li S, Narod SA.

Clin Genet. 2012 Nov;82(5):484-8. doi: 10.1111/j.1399-0004.2011.01774.x. Epub 2011 Oct 5.

PubMed [citation]

PMID:: 21895635

See all PubMed Citations (7)

Details of each submission

From Ambry Genetics, SCV000673014.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (6)

Description

Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	1	not provided	not provided		1	not provided	not provided	not provided

From Color, SCV000688435.1

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

#	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: Jun 15, 2020

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