NM_000251.3(MSH2):c.483del (p.Gly162fs) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 10, 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:: RCV002330782.2

Allele description [Variation Report for NM_000251.3(MSH2):c.483del (p.Gly162fs)]

NM_000251.3(MSH2):c.483del (p.Gly162fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

2p21

Genomic location:

Preferred name:

NM_000251.3(MSH2):c.483del (p.Gly162fs)

HGVS:

NC_000002.12:g.47410210del
NG_007110.2:g.12087del
NM_000251.3:c.483delMANE SELECT
NM_001258281.1:c.285del
NM_001406631.1:c.483delT
NM_001406632.1:c.483delT
NM_001406633.1:c.483delT
NM_001406634.1:c.483delT
NM_001406635.1:c.483delT
NM_001406636.1:c.483delT
NM_001406637.1:c.483delT
NM_001406638.1:c.483delT
NM_001406639.1:c.483delT
NM_001406640.1:c.483delT
NM_001406641.1:c.483delT
NM_001406642.1:c.483delT
NM_001406643.1:c.483delT
NM_001406644.1:c.483delT
NM_001406645.1:c.483delT
NM_001406646.1:c.483delT
NM_001406647.1:c.483delT
NM_001406648.1:c.483delT
NM_001406649.1:c.483delT
NM_001406650.1:c.483delT
NM_001406651.1:c.483delT
NM_001406652.1:c.483delT
NM_001406653.1:c.423delT
NM_001406654.1:c.63delT
NM_001406655.1:c.483delT
NM_001406656.1:c.-513delT
NM_001406657.1:c.483delT
NM_001406658.1:c.-836delT
NM_001406659.1:c.-986delT
NM_001406660.1:c.-1183delT
NM_001406661.1:c.-1138delT
NM_001406662.1:c.-1055delT
NM_001406666.1:c.483delT
NM_001406669.1:c.-986delT
NM_001406672.1:c.483delT
NM_001406674.1:c.483delT
NP_000242.1:p.Gly162Glufs
NP_000242.1:p.Gly162fs
NP_001245210.1:p.Gly96fs
NP_001393560.1:p.Gly162Glufs
NP_001393561.1:p.Gly162Glufs
NP_001393562.1:p.Gly162Glufs
NP_001393563.1:p.Gly162Glufs
NP_001393564.1:p.Gly162Glufs
NP_001393565.1:p.Gly162Glufs
NP_001393566.1:p.Gly162Glufs
NP_001393567.1:p.Gly162Glufs
NP_001393568.1:p.Gly162Glufs
NP_001393569.1:p.Gly162Glufs
NP_001393570.1:p.Gly162Glufs
NP_001393571.1:p.Gly162Glufs
NP_001393572.1:p.Gly162Glufs
NP_001393573.1:p.Gly162Glufs
NP_001393574.1:p.Gly162Glufs
NP_001393575.1:p.Gly162Glufs
NP_001393576.1:p.Gly162Glufs
NP_001393577.1:p.Gly162Glufs
NP_001393578.1:p.Gly162Glufs
NP_001393579.1:p.Gly162Glufs
NP_001393580.1:p.Gly162Glufs
NP_001393581.1:p.Gly162Glufs
NP_001393582.1:p.Gly142Glufs
NP_001393583.1:p.Gly22Glufs
NP_001393584.1:p.Gly162Glufs
NP_001393586.1:p.Gly162Glufs
NP_001393595.1:p.Gly162Glufs
NP_001393601.1:p.Gly162Glufs
NP_001393603.1:p.Gly162Glufs
LRG_218t1:c.483del
LRG_218:g.12087del
LRG_218p1:p.Gly162Glufs
NC_000002.11:g.47637349del
NM_000251.1:c.483delT
NM_000251.2:c.483delT
NR_176230.1:n.519delT
NR_176231.1:n.519delT
NR_176232.1:n.519delT
NR_176233.1:n.511delT
NR_176234.1:n.519delT
NR_176235.1:n.519delT
NR_176236.1:n.519delT
NR_176237.1:n.519delT
NR_176238.1:n.519delT
NR_176239.1:n.519delT
NR_176240.1:n.519delT
NR_176241.1:n.519delT
NR_176242.1:n.519delT
NR_176243.1:n.519delT
NR_176244.1:n.519delT
NR_176245.1:n.519delT
NR_176246.1:n.519delT
NR_176247.1:n.519delT
NR_176248.1:n.519delT
NR_176249.1:n.519delT
NR_176250.1:n.519delT

Protein change:

G162fs

Molecular consequence:

NM_000251.3:c.483del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001258281.1:c.285del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406631.1:c.483delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406632.1:c.483delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406633.1:c.483delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406634.1:c.483delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406635.1:c.483delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406636.1:c.483delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406637.1:c.483delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406638.1:c.483delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406639.1:c.483delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406640.1:c.483delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406641.1:c.483delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406642.1:c.483delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406643.1:c.483delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406644.1:c.483delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406645.1:c.483delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406646.1:c.483delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406647.1:c.483delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406648.1:c.483delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406649.1:c.483delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406650.1:c.483delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406651.1:c.483delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406652.1:c.483delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406653.1:c.423delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406654.1:c.63delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406655.1:c.483delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406657.1:c.483delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406666.1:c.483delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406672.1:c.483delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406674.1:c.483delT - 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
SCV002634067	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Sep 10, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002634067

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Sep 10, 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, SCV002634067.2

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

Description

The c.483delT pathogenic mutation, located in coding exon 3 of the MSH2 gene, results from a deletion of one nucleotide at nucleotide position 483, causing a translational frameshift with a predicted alternate stop codon. 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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