NM_000059.4(BRCA2):c.7210_7216delinsTGTAG (p.Lys2404fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 20, 2016
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:: RCV000255333.1

Allele description [Variation Report for NM_000059.4(BRCA2):c.7210_7216delinsTGTAG (p.Lys2404fs)]

NM_000059.4(BRCA2):c.7210_7216delinsTGTAG (p.Lys2404fs)

Gene:

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

Variant type:

Indel

Cytogenetic location:

13q13.1

Genomic location:

Preferred name:

NM_000059.4(BRCA2):c.7210_7216delinsTGTAG (p.Lys2404fs)

HGVS:

NC_000013.11:g.32355063_32355069delinsTGTAG
NG_012772.3:g.44584_44590delinsTGTAG
NM_000059.4:c.7210_7216delinsTGTAGMANE SELECT
NP_000050.3:p.Lys2404fs
LRG_293:g.44584_44590delinsTGTAG
NC_000013.10:g.32929200_32929206delinsTGTAG
NM_000059.3:c.7210_7216delAAAGTCTinsTGTAG
p.(Lys2404CysfsTer7)

Protein change:

K2404fs

Links:

dbSNP: rs397507904

NCBI 1000 Genomes Browser:

rs397507904

Molecular consequence:

NM_000059.4:c.7210_7216delinsTGTAG - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000322533	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Jan 20, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000322533

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Jan 20, 2016)

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, SCV000322533.6

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

Description

This combined deletion and insertion is denoted BRCA2 c.7210_7216delAAAGTCTinsTGTAG at the cDNA level and p.Lys2404CysfsX7 (K2404CfsX7) at the protein level. The normal sequence, with the bases that are deleted in braces and inserted in brackets, is AACC[AAAGTCT][TGTAG]TTGT. The variant causes a frameshift, which changes a Lysine to a Cysteine at codon 2404, and creates a premature stop codon at position 7 of the new reading frame. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. We consider this variant to be pathogenic.

#	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: Mar 30, 2024

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