NM_000059.4(BRCA2):c.5101C>T (p.Gln1701Ter) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 24, 2020
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:: RCV002336174.9

Allele description [Variation Report for NM_000059.4(BRCA2):c.5101C>T (p.Gln1701Ter)]

NM_000059.4(BRCA2):c.5101C>T (p.Gln1701Ter)

Gene:

BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

13q13.1

Genomic location:

Preferred name:

NM_000059.4(BRCA2):c.5101C>T (p.Gln1701Ter)

Other names:

Q1701X (5329C>T)

HGVS:

NC_000013.11:g.32339456C>T
NG_012772.3:g.28977C>T
NM_000059.4:c.5101C>TMANE SELECT
NP_000050.2:p.Gln1701Ter
NP_000050.3:p.Gln1701Ter
LRG_293t1:c.5101C>T
LRG_293:g.28977C>T
LRG_293p1:p.Gln1701Ter
NC_000013.10:g.32913593C>T
NM_000059.3:c.5101C>T
p.Gln1701*
p.Gln1701X

Protein change:

Q1701*

Links:

dbSNP: rs397507758

NCBI 1000 Genomes Browser:

rs397507758

Molecular consequence:

NM_000059.4:c.5101C>T - nonsense - [Sequence Ontology: SO:0001587]

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
SCV002641944	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Mar 24, 2020)	germline	clinical testing	PubMed (6) [See all records that cite these PMIDs] 22923021, 23397983, 24312913, 28740454, 29446198, 31209999 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002641944

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Mar 24, 2020)

germline

clinical testing

PubMed (6)
[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	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Novel BRCA1 and BRCA2 pathogenic mutations in Slovene hereditary breast and ovarian cancer families.

Novaković S, Milatović M, Cerkovnik P, Stegel V, Krajc M, Hočevar M, Zgajnar J, Vakselj A.

Int J Oncol. 2012 Nov;41(5):1619-27. doi: 10.3892/ijo.2012.1595. Epub 2012 Aug 21.

PubMed [citation]

PMID:: 22923021
PMCID:: PMC3583621

Geographical distribution of Slovenian BRCA1/2 families according to family origin: implications for genetic screening.

Krajc M, Zadnik V, Novaković S, Stegel V, Teugels E, Bešič N, Hočevar M, Vakselj A, De Grève J, Zgajnar J.

Clin Genet. 2014 Jan;85(1):59-63. doi: 10.1111/cge.12119. Epub 2013 Mar 11.

PubMed [citation]

PMID:: 23397983

See all PubMed Citations (6)

Details of each submission

From Ambry Genetics, SCV002641944.2

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

Description

The p.Q1701* pathogenic mutation (also known as c.5101C>T), located in coding exon 10 of the BRCA2 gene, results from a C to T substitution at nucleotide position 5101. This changes the amino acid from a glutamine to a stop codon within coding exon 10. This mutation has been reported in multiple hereditary breast and ovarian cancer families (Novakovi S et al. Int. J. Oncol., 2012 Nov;41:1619-27; Rebbeck TR et al. Hum. Mutat., 2018 05;39:593-620). 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	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 3, 2024

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