NM_000059.4(BRCA2):c.4276dup (p.Thr1426fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 21, 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:: RCV000657226.12

Allele description [Variation Report for NM_000059.4(BRCA2):c.4276dup (p.Thr1426fs)]

NM_000059.4(BRCA2):c.4276dup (p.Thr1426fs)

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.4276dup (p.Thr1426fs)

HGVS:

NC_000013.11:g.32338631dup
NG_012772.3:g.28152dup
NM_000059.4:c.4276dupMANE SELECT
NM_000059.4:c.4276dupA
NP_000050.3:p.Thr1426fs
LRG_293t1:c.4276dup
LRG_293:g.28152dup
NC_000013.10:g.32912767_32912768insA
NC_000013.10:g.32912768dup
NC_000013.11:g.32338631_32338632insA
NM_000059.3:c.4276dup
NM_000059.3:c.4276dupA
NM_000059.4:c.4276dup
U43746.1:n.4504_4505insA
p.T1426NFS*12

Nucleotide change:

4504insA

Protein change:

T1426fs

Links:

Breast Cancer Information Core (BIC) (BRCA2): 4504&base_change=ins A; dbSNP: rs80359438

NCBI 1000 Genomes Browser:

rs80359438

Molecular consequence:

NM_000059.4:c.4276dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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LOC100273169 [Zea mays]
LOC100273169 [Zea mays]
Gene ID:100273169

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000778952	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Jul 21, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000778952

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Jul 21, 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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000778952.4

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

Description

Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Reported in association with hereditary breast and/or ovarian cancer (Lubinski et al., 2004); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Not observed at significant frequency in large population cohorts (gnomAD); Also known as 4504dupA and 4504insA; This variant is associated with the following publications: (PMID: 28281021, 28152038, 29446198, 31853058, 33084842, 32918181, 15131399, 33087929)

#	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

Last Updated: Nov 10, 2024

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