NM_000059.4(BRCA2):c.8951C>G (p.Ser2984Ter) AND Hereditary breast ovarian cancer syndrome

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Aug 17, 2023
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:: RCV000496423.16

Allele description [Variation Report for NM_000059.4(BRCA2):c.8951C>G (p.Ser2984Ter)]

NM_000059.4(BRCA2):c.8951C>G (p.Ser2984Ter)

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.8951C>G (p.Ser2984Ter)

HGVS:

NC_000013.11:g.32379513C>G
NG_012772.3:g.69034C>G
NM_000059.4:c.8951C>GMANE SELECT
NP_000050.2:p.Ser2984Ter
NP_000050.3:p.Ser2984Ter
LRG_293t1:c.8951C>G
LRG_293:g.69034C>G
LRG_293p1:p.Ser2984Ter
NC_000013.10:g.32953650C>G
NM_000059.3:c.8951C>G
U43746.1:n.9179C>G

Protein change:

S2984*

Links:

dbSNP: rs80359146

NCBI 1000 Genomes Browser:

rs80359146

Molecular consequence:

NM_000059.4:c.8951C>G - 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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F Studier (562298)
SRA
hCG1818658 [Homo sapiens]
hCG1818658 [Homo sapiens]
gi|119607623|gb|EAW87217.1||gnl|WGS |hCP1779385

Protein
ELFN1 [Mauremys mutica]
ELFN1 [Mauremys mutica]
Gene ID:123343737

Gene
PPP1R16B [Pongo abelii]
PPP1R16B [Pongo abelii]
Gene ID:100448761

Gene
PPP1R16B [Nomascus leucogenys]
PPP1R16B [Nomascus leucogenys]
Gene ID:100590439

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000587979	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
SCV001589674	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Aug 17, 2023)	germline	clinical testing	PubMed (8) [See all records that cite these PMIDs] 8988179, 16644204, 28205045, 28724667, 29446198, 29681614, 20104584, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000587979

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

SCV001589674

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Aug 17, 2023)

germline

clinical testing

PubMed (8)
[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

Variation of risks of breast and ovarian cancer associated with different germline mutations of the BRCA2 gene.

Gayther SA, Mangion J, Russell P, Seal S, Barfoot R, Ponder BA, Stratton MR, Easton D.

Nat Genet. 1997 Jan;15(1):103-5.

PubMed [citation]

PMID:: 8988179

BRCA1, BRCA2 and TP53 mutations in very early-onset breast cancer with associated risks to relatives.

Lalloo F, Varley J, Moran A, Ellis D, O'dair L, Pharoah P, Antoniou A, Hartley R, Shenton A, Seal S, Bulman B, Howell A, Evans DG.

Eur J Cancer. 2006 May;42(8):1143-50. Epub 2006 Apr 27.

PubMed [citation]

PMID:: 16644204

See all PubMed Citations (8)

Details of each submission

From Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto - The Canadian Open Genetics Repository (COGR), SCV000587979.1

#	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, SCV001589674.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (8)

Description

This premature translational stop signal has been observed in individual(s) with breast and/or ovarian cancer (PMID: 8988179, 16644204, 28205045, 28724667, 29446198, 29681614; Invitae). This variant is also known as 9179C>G. ClinVar contains an entry for this variant (Variation ID: 38197). For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser2984*) 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).

#	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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