NM_007294.4(BRCA1):c.5161C>T (p.Gln1721Ter) AND Hereditary cancer-predisposing syndrome

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

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 20, 2016
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:: RCV000571650.1

Allele description

NM_007294.4(BRCA1):c.5161C>T (p.Gln1721Ter)

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.5161C>T (p.Gln1721Ter)

Other names:

5280 C>T

HGVS:

NC_000017.11:g.43063365G>A
NG_005905.2:g.154619C>T
NM_007294.4:c.5161C>TMANE SELECT
NM_007297.4:c.5020C>T
NM_007299.4:c.1849C>T
NM_007300.4:c.5224C>T
NP_009225.1:p.Gln1721Ter
NP_009225.1:p.Gln1721Ter
NP_009228.2:p.Gln1674Ter
NP_009229.2:p.Gln617Ter
NP_009230.2:p.Gln617Ter
NP_009231.2:p.Gln1742Ter
LRG_292t1:c.5161C>T
LRG_292:g.154619C>T
LRG_292p1:p.Gln1721Ter
NC_000017.10:g.41215382G>A
NM_007294.3:c.5161C>T
NM_007298.3:c.1849C>T
NR_027676.2:n.5338C>T
p.Gln1721X

Protein change:

Q1674*

Links:

dbSNP: rs878854957

NCBI 1000 Genomes Browser:

rs878854957

Molecular consequence:

NR_027676.2:n.5338C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_007294.4:c.5161C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_007297.4:c.5020C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_007299.4:c.1849C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_007300.4:c.5224C>T - nonsense - [Sequence Ontology: SO:0001587]

Functional consequence:

functionally_abnormal [Sequence Ontology: SO:0002218] - Comment(s)

Observations:

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000661104	Ambry Genetics	criteria provided, single submitter (Ambry Autosomal Dominant and X-Linked criteria (10/2015))	Pathogenic (Dec 20, 2016)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 20960228, 23175448, 26306726 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000661104

Ambry Genetics

criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (10/2015))

Pathogenic
(Dec 20, 2016)

germline

clinical testing

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	1	not provided	not provided	1	not provided	clinical testing

Citations

PubMed

Germline mutations in BRCA1 and BRCA2 genes in ethnically diverse high risk families in Israel.

Laitman Y, Borsthein RT, Stoppa-Lyonnet D, Dagan E, Castera L, Goislard M, Gershoni-Baruch R, Goldberg H, Kaufman B, Ben-Baruch N, Zidan J, Maray T, Soussan-Gutman L, Friedman E.

Breast Cancer Res Treat. 2011 Jun;127(2):489-95. doi: 10.1007/s10549-010-1217-0. Epub 2010 Oct 20.

PubMed [citation]

PMID:: 20960228

BRCA1 germ-line mutations and tumor characteristics in eastern Chinese women with familial breast cancer.

Cao W, Wang X, Gao Y, Yang H, Li JC.

Anat Rec (Hoboken). 2013 Feb;296(2):273-8. doi: 10.1002/ar.22628. Epub 2012 Nov 23.

PubMed [citation]

PMID:: 23175448

See all PubMed Citations (3)

Details of each submission

From Ambry Genetics, SCV000661104.3

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

Description

The p.Q1721* pathogenic mutation (also known as c.5161C>T), located in coding exon 17 of the BRCA1 gene, results from a C to T substitution at nucleotide position 5161. This changes the amino acid from a glutamine to a stop codon within coding exon 17. This mutation has been reported in individuals from various ethnic backgrounds with breast and/or ovarian cancer (Minucci A et al. Expert Rev. Mol. Diagn. 2015 Aug;15:1383-403; Laitman Y et al. Breast Cancer Res. Treat. 2011 Jun;127:489-95; Cao W et al. Anat Rec (Hoboken) 2013 Feb;296:273-8). Of note, this alteration is also designated as 5280C>T in published literature. In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

#	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

Last Updated: Jun 18, 2022

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