NM_000059.4(BRCA2):c.2842dup (p.Val948fs) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 24, 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:: RCV002433599.3

Allele description [Variation Report for NM_000059.4(BRCA2):c.2842dup (p.Val948fs)]

NM_000059.4(BRCA2):c.2842dup (p.Val948fs)

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.2842dup (p.Val948fs)

Other names:

3070insG

HGVS:

NC_000013.11:g.32337197dup
NG_012772.3:g.26718dup
NM_000059.4:c.2842dupMANE SELECT
NP_000050.3:p.Val948fs
LRG_293:g.26718dup
NC_000013.10:g.32911334dup
NM_000059.3:c.2842dupG
U43746.1:n.3070_3071insG

Protein change:

V948fs

Links:

Breast Cancer Information Core (BIC) (BRCA2): 3070&base_change=ins G; dbSNP: rs80359359

NCBI 1000 Genomes Browser:

rs80359359

Molecular consequence:

NM_000059.4:c.2842dup - frameshift variant - [Sequence Ontology: SO:0001589]

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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Slc35g2 solute carrier family 35, member G2 [Mus musculus]
Slc35g2 solute carrier family 35, member G2 [Mus musculus]
Gene ID:245020

Gene
245020[uid] AND (alive[prop]) (1)
Gene
Rattus norvegicus myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog,...
Rattus norvegicus myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 11, mRNA (cDNA clone MGC:105625 IMAGE:7318415), complete cds
gi|62825987|gb|BC094215.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002751765	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Aug 24, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002751765

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Aug 24, 2023)

germline

clinical testing

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

Details of each submission

From Ambry Genetics, SCV002751765.3

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

Description

The c.2842dupG pathogenic mutation, located in coding exon 10 of the BRCA2 gene, results from a duplication of G at nucleotide position 2842, causing a translational frameshift with a predicted alternate stop codon (p.V948Gfs*11). 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: Sep 1, 2024

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