NM_000251.3(MSH2):c.1792_1796del (p.Val598fs) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 5, 2019
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:: RCV001013187.3

Allele description [Variation Report for NM_000251.3(MSH2):c.1792_1796del (p.Val598fs)]

NM_000251.3(MSH2):c.1792_1796del (p.Val598fs)

Gene:

MSH2:mutS homolog 2 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

2p21

Genomic location:

Preferred name:

NM_000251.3(MSH2):c.1792_1796del (p.Val598fs)

HGVS:

NC_000002.12:g.47475057_47475061del
NG_007110.2:g.76934_76938del
NM_000251.3:c.1792_1796delMANE SELECT
NM_001258281.1:c.1594_1598del
NP_000242.1:p.Val598fs
NP_001245210.1:p.Val532fs
LRG_218:g.76934_76938del
NC_000002.11:g.47702196_47702200del
NM_000251.1:c.1792_1796delGTGTT

Protein change:

V532fs

Links:

dbSNP: rs1573566411

NCBI 1000 Genomes Browser:

rs1573566411

Molecular consequence:

NM_000251.3:c.1792_1796del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001258281.1:c.1594_1598del - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001173738	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Mar 5, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001173738

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Mar 5, 2019)

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, SCV001173738.4

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

Description

The c.1792_1796delGTGTT pathogenic mutation, located in coding exon 12 of the MSH2 gene, results from a deletion of 5 nucleotides at nucleotide positions 1792 to 1796, causing a translational frameshift with a predicted alternate stop codon (p.V598Sfs*44). 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: May 1, 2024

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