NM_000251.3(MSH2):c.441del (p.Val148fs) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 15, 2021
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:: RCV002333883.2

Allele description [Variation Report for NM_000251.3(MSH2):c.441del (p.Val148fs)]

NM_000251.3(MSH2):c.441del (p.Val148fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

2p21

Genomic location:

Preferred name:

NM_000251.3(MSH2):c.441del (p.Val148fs)

HGVS:

NC_000002.12:g.47410168del
NG_007110.2:g.12045del
NM_000251.3:c.441delMANE SELECT
NM_001258281.1:c.243del
NM_001406631.1:c.441delT
NM_001406632.1:c.441delT
NM_001406633.1:c.441delT
NM_001406634.1:c.441delT
NM_001406635.1:c.441delT
NM_001406636.1:c.441delT
NM_001406637.1:c.441delT
NM_001406638.1:c.441delT
NM_001406639.1:c.441delT
NM_001406640.1:c.441delT
NM_001406641.1:c.441delT
NM_001406642.1:c.441delT
NM_001406643.1:c.441delT
NM_001406644.1:c.441delT
NM_001406645.1:c.441delT
NM_001406646.1:c.441delT
NM_001406647.1:c.441delT
NM_001406648.1:c.441delT
NM_001406649.1:c.441delT
NM_001406650.1:c.441delT
NM_001406651.1:c.441delT
NM_001406652.1:c.441delT
NM_001406653.1:c.381delT
NM_001406654.1:c.21delT
NM_001406655.1:c.441delT
NM_001406656.1:c.-555delT
NM_001406657.1:c.441delT
NM_001406658.1:c.-878delT
NM_001406659.1:c.-1028delT
NM_001406660.1:c.-1225delT
NM_001406661.1:c.-1180delT
NM_001406662.1:c.-1097delT
NM_001406666.1:c.441delT
NM_001406669.1:c.-1028delT
NM_001406672.1:c.441delT
NM_001406674.1:c.441delT
NP_000242.1:p.Val148Trpfs
NP_000242.1:p.Val148fs
NP_001245210.1:p.Val82fs
NP_001393560.1:p.Val148Trpfs
NP_001393561.1:p.Val148Trpfs
NP_001393562.1:p.Val148Trpfs
NP_001393563.1:p.Val148Trpfs
NP_001393564.1:p.Val148Trpfs
NP_001393565.1:p.Val148Trpfs
NP_001393566.1:p.Val148Trpfs
NP_001393567.1:p.Val148Trpfs
NP_001393568.1:p.Val148Trpfs
NP_001393569.1:p.Val148Trpfs
NP_001393570.1:p.Val148Trpfs
NP_001393571.1:p.Val148Trpfs
NP_001393572.1:p.Val148Trpfs
NP_001393573.1:p.Val148Trpfs
NP_001393574.1:p.Val148Trpfs
NP_001393575.1:p.Val148Trpfs
NP_001393576.1:p.Val148Trpfs
NP_001393577.1:p.Val148Trpfs
NP_001393578.1:p.Val148Trpfs
NP_001393579.1:p.Val148Trpfs
NP_001393580.1:p.Val148Trpfs
NP_001393581.1:p.Val148Trpfs
NP_001393582.1:p.Val128Trpfs
NP_001393583.1:p.Val8Trpfs
NP_001393584.1:p.Val148Trpfs
NP_001393586.1:p.Val148Trpfs
NP_001393595.1:p.Val148Trpfs
NP_001393601.1:p.Val148Trpfs
NP_001393603.1:p.Val148Trpfs
LRG_218t1:c.441del
LRG_218:g.12045del
LRG_218p1:p.Val148Trpfs
NC_000002.11:g.47637306del
NC_000002.11:g.47637307del
NM_000251.1:c.441delT
NM_000251.2:c.441delT
NR_176230.1:n.477delT
NR_176231.1:n.477delT
NR_176232.1:n.477delT
NR_176233.1:n.469delT
NR_176234.1:n.477delT
NR_176235.1:n.477delT
NR_176236.1:n.477delT
NR_176237.1:n.477delT
NR_176238.1:n.477delT
NR_176239.1:n.477delT
NR_176240.1:n.477delT
NR_176241.1:n.477delT
NR_176242.1:n.477delT
NR_176243.1:n.477delT
NR_176244.1:n.477delT
NR_176245.1:n.477delT
NR_176246.1:n.477delT
NR_176247.1:n.477delT
NR_176248.1:n.477delT
NR_176249.1:n.477delT
NR_176250.1:n.477delT

Protein change:

V148fs

Molecular consequence:

NM_000251.3:c.441del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001258281.1:c.243del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406631.1:c.441delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406632.1:c.441delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406633.1:c.441delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406634.1:c.441delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406635.1:c.441delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406636.1:c.441delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406637.1:c.441delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406638.1:c.441delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406639.1:c.441delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406640.1:c.441delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406641.1:c.441delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406642.1:c.441delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406643.1:c.441delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406644.1:c.441delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406645.1:c.441delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406646.1:c.441delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406647.1:c.441delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406648.1:c.441delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406649.1:c.441delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406650.1:c.441delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406651.1:c.441delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406652.1:c.441delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406653.1:c.381delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406654.1:c.21delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406655.1:c.441delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406657.1:c.441delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406666.1:c.441delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406672.1:c.441delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406674.1:c.441delT - 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

Recent activity

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Nucleotide
tyrosyl-DNA phosphodiesterase 2 isoform X1 [Rattus norvegicus]
tyrosyl-DNA phosphodiesterase 2 isoform X1 [Rattus norvegicus]
gi|2678907757|ref|XP_063132761.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002629188	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Apr 15, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002629188

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Apr 15, 2021)

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, SCV002629188.2

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

Description

The c.441delT pathogenic mutation, located in coding exon 3 of the MSH2 gene, results from a deletion of one nucleotide at nucleotide position 441, causing a translational frameshift with a predicted alternate stop codon (p.V148Wfs*26). This mutation has been detected in an individual with colorectal cancer that demonstrated high microsatellite instability (MSI-H) and loss of MSH2 and MSH6 staining on immunohistochemistry (IHC) (Ambry internal data). 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: Sep 29, 2024

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