NM_000251.3(MSH2):c.352_358del (p.Tyr118fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 28, 2015
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:: RCV000235445.1

Allele description [Variation Report for NM_000251.3(MSH2):c.352_358del (p.Tyr118fs)]

NM_000251.3(MSH2):c.352_358del (p.Tyr118fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

2p21

Genomic location:

Preferred name:

NM_000251.3(MSH2):c.352_358del (p.Tyr118fs)

HGVS:

NC_000002.12:g.47408541_47408547del
NG_007110.2:g.10418_10424del
NM_000251.3:c.352_358delMANE SELECT
NM_001258281.1:c.154_160del
NP_000242.1:p.Tyr118fs
NP_001245210.1:p.Tyr52fs
LRG_218:g.10418_10424del
NC_000002.11:g.47635676_47635682del
NC_000002.11:g.47635680_47635686del
NM_000251.1:c.352_358delTATTTGG
NM_000251.2:c.352_358delTATTTGG

Protein change:

Y118fs

Links:

dbSNP: rs879254025

NCBI 1000 Genomes Browser:

rs879254025

Molecular consequence:

NM_000251.3:c.352_358del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001258281.1:c.154_160del - 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
SCV000293204	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Sep 28, 2015)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000293204

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Sep 28, 2015)

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, SCV000293204.10

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

Description

This deletion of 7 nucleotides in MSH2 is denoted c.352_358delTATTTGG at the cDNA level and p.Tyr118HisfsX54 (Y118HfsX54) at the protein level. The normal sequence, with the bases that are deleted in braces, is TTGG[TATTTGG]CATA. The deletion, also known as 352del7 using alternative nomenclature, causes a frameshift, which changes a Tyrosine to a Histidine at codon 118, and creates a premature stop codon at position 54 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: Sep 29, 2024

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