NM_000059.4(BRCA2):c.1943del (p.Ser648fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 30, 2020
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:: RCV001775681.2

Allele description [Variation Report for NM_000059.4(BRCA2):c.1943del (p.Ser648fs)]

NM_000059.4(BRCA2):c.1943del (p.Ser648fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

13q13.1

Genomic location:

Preferred name:

NM_000059.4(BRCA2):c.1943del (p.Ser648fs)

HGVS:

NC_000013.11:g.32336298del
NG_012772.3:g.25819del
NM_000059.4:c.1943delMANE SELECT
NP_000050.2:p.Ser648fs
NP_000050.3:p.Ser648fs
LRG_293t1:c.1943del
LRG_293:g.25819del
LRG_293p1:p.Ser648fs
NC_000013.10:g.32910435del
NM_000059.3:c.1943del
NM_000059.3:c.1943delC
p.(Ser648TyrfsTer12)

Nucleotide change:

2171delC

Protein change:

S648fs

Links:

dbSNP: rs876658660

NCBI 1000 Genomes Browser:

rs876658660

Molecular consequence:

NM_000059.4:c.1943del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002013435	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Dec 30, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002013435

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Dec 30, 2020)

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, SCV002013435.2

#	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; Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek 2016); Also known as 2171delC

#	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: Sep 29, 2024

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