NM_000059.4(BRCA2):c.468dup (p.Lys157Ter) AND Hereditary breast ovarian cancer syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 27, 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:: RCV001382891.7

Allele description [Variation Report for NM_000059.4(BRCA2):c.468dup (p.Lys157Ter)]

NM_000059.4(BRCA2):c.468dup (p.Lys157Ter)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

13q13.1

Genomic location:

Preferred name:

NM_000059.4(BRCA2):c.468dup (p.Lys157Ter)

HGVS:

NC_000013.11:g.32326143dup
NG_012772.3:g.15664dup
NM_000059.4:c.468dupMANE SELECT
NP_000050.2:p.Lys157Ter
NP_000050.3:p.Lys157Ter
LRG_293t1:c.468dup
LRG_293:g.15664dup
LRG_293p1:p.Lys157Ter
NC_000013.10:g.32900279_32900280insT
NC_000013.10:g.32900280dup
NM_000059.3:c.468dup
NM_000059.3:c.468dupT
p.(Lys157Ter)

Protein change:

K157*

Links:

dbSNP: rs1555280955

NCBI 1000 Genomes Browser:

rs1555280955

Molecular consequence:

NM_000059.4:c.468dup - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001581847	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Apr 27, 2023)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 11793480, 30333958, 20104584, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001581847

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Apr 27, 2023)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

BRCA1 and BRCA2 mutations in Russian familial breast cancer.

Tereschenko IV, Basham VM, Ponder BA, Pharoah PD.

Hum Mutat. 2002 Feb;19(2):184.

PubMed [citation]

PMID:: 11793480

The Ethnic-Specific Spectrum of Germline Nucleotide Variants in DNA Damage Response and Repair Genes in Hereditary Breast and Ovarian Cancer Patients of Tatar Descent.

Brovkina OI, Shigapova L, Chudakova DA, Gordiev MG, Enikeev RF, Druzhkov MO, Khodyrev DS, Shagimardanova EI, Nikitin AG, Gusev OA.

Front Oncol. 2018;8:421. doi: 10.3389/fonc.2018.00421.

PubMed [citation]

PMID:: 30333958
PMCID:: PMC6176317

See all PubMed Citations (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001581847.4

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

Description

For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 548417). This variant is also known as 695insT. This premature translational stop signal has been observed in individual(s) with breast and/or ovarian cancer (PMID: 11793480, 30333958). This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.Lys157*) 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: Sep 29, 2024

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