NM_000059.4(BRCA2):c.8572C>T (p.Gln2858Ter) AND Hereditary breast ovarian cancer syndrome

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Mar 27, 2022
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:: RCV000496700.18

Allele description [Variation Report for NM_000059.4(BRCA2):c.8572C>T (p.Gln2858Ter)]

NM_000059.4(BRCA2):c.8572C>T (p.Gln2858Ter)

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.8572C>T (p.Gln2858Ter)

HGVS:

NC_000013.11:g.32371040C>T
NG_012772.3:g.60561C>T
NM_000059.4:c.8572C>TMANE SELECT
NP_000050.2:p.Gln2858Ter
NP_000050.3:p.Gln2858Ter
LRG_293t1:c.8572C>T
LRG_293:g.60561C>T
LRG_293p1:p.Gln2858Ter
NC_000013.10:g.32945177C>T
NM_000059.3:c.8572C>T
U43746.1:n.8800C>T
p.Gln2858*

Protein change:

Q2858*

Links:

dbSNP: rs80359112

NCBI 1000 Genomes Browser:

rs80359112

Molecular consequence:

NM_000059.4:c.8572C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Hereditary breast ovarian cancer syndrome
Synonyms:: Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC); See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145

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Gene ID:121495583

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000587960	Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto - The Canadian Open Genetics Repository (COGR)	no assertion criteria provided	Pathogenic (Jan 31, 2014)	germline	research
SCV001585855	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Mar 27, 2022)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 10449599, 25066507, 20104584, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000587960

Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto - The Canadian Open Genetics Repository (COGR)

no assertion criteria provided

Pathogenic
(Jan 31, 2014)

germline

research

SCV001585855

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Mar 27, 2022)

germline

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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	research
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

BRCA1 and BRCA2 genes: role in hereditary breast and ovarian cancer in Italy.

Santarosa M, Dolcetti R, Magri MD, Crivellari D, Tibiletti MG, Gallo A, Tumolo S, Della Puppa L, Furlan D, Boiocchi M, Viel A.

Int J Cancer. 1999 Sep 24;83(1):5-9.

PubMed [citation]

PMID:: 10449599

Comprehensive BRCA1 and BRCA2 mutational profile in Lithuania.

Janavičius R, Rudaitis V, Mickys U, Elsakov P, Griškevičius L.

Cancer Genet. 2014 May;207(5):195-205. doi: 10.1016/j.cancergen.2014.05.002. Epub 2014 May 10.

PubMed [citation]

PMID:: 25066507

See all PubMed Citations (4)

Details of each submission

From Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto - The Canadian Open Genetics Repository (COGR), SCV000587960.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	not provided

#	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

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001585855.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

Description

ClinVar contains an entry for this variant (Variation ID: 52624). This variant is also known as C8800T. This premature translational stop signal has been observed in individual(s) with breast cancer and/or ovarian cancer (PMID: 10449599, 25066507). This variant is present in population databases (rs80359112, gnomAD 0.02%). This sequence change creates a premature translational stop signal (p.Gln2858*) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.

#	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: Oct 26, 2024

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