NM_000251.3(MSH2):c.778_780delinsTT (p.Glu260fs) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 10, 2020
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:: RCV002409821.2

Allele description [Variation Report for NM_000251.3(MSH2):c.778_780delinsTT (p.Glu260fs)]

NM_000251.3(MSH2):c.778_780delinsTT (p.Glu260fs)

Gene:

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

Variant type:

Indel

Cytogenetic location:

2p21

Genomic location:

Preferred name:

NM_000251.3(MSH2):c.778_780delinsTT (p.Glu260fs)

HGVS:

NC_000002.12:g.47412546_47412548delinsTT
NG_007110.2:g.14423_14425delinsTT
NM_000251.3:c.778_780delinsTTMANE SELECT
NM_001258281.1:c.580_582delinsTT
NM_001406631.1:c.778_780delGAAinsTT
NM_001406632.1:c.778_780delGAAinsTT
NM_001406633.1:c.778_780delGAAinsTT
NM_001406634.1:c.778_780delGAAinsTT
NM_001406635.1:c.778_780delGAAinsTT
NM_001406636.1:c.778_780delGAAinsTT
NM_001406637.1:c.778_780delGAAinsTT
NM_001406638.1:c.778_780delGAAinsTT
NM_001406639.1:c.778_780delGAAinsTT
NM_001406640.1:c.778_780delGAAinsTT
NM_001406641.1:c.778_780delGAAinsTT
NM_001406642.1:c.778_780delGAAinsTT
NM_001406643.1:c.778_780delGAAinsTT
NM_001406644.1:c.778_780delGAAinsTT
NM_001406645.1:c.778_780delGAAinsTT
NM_001406646.1:c.778_780delGAAinsTT
NM_001406647.1:c.778_780delGAAinsTT
NM_001406648.1:c.778_780delGAAinsTT
NM_001406649.1:c.778_780delGAAinsTT
NM_001406650.1:c.778_780delGAAinsTT
NM_001406651.1:c.778_780delGAAinsTT
NM_001406652.1:c.778_780delGAAinsTT
NM_001406653.1:c.718_720delGAAinsTT
NM_001406654.1:c.358_360delGAAinsTT
NM_001406655.1:c.778_780delGAAinsTT
NM_001406656.1:c.-218_-216delGAAinsTT
NM_001406657.1:c.778_780delGAAinsTT
NM_001406658.1:c.-541_-539delGAAinsTT
NM_001406659.1:c.-691_-689delGAAinsTT
NM_001406660.1:c.-888_-886delGAAinsTT
NM_001406661.1:c.-843_-841delGAAinsTT
NM_001406662.1:c.-760_-758delGAAinsTT
NM_001406666.1:c.778_780delGAAinsTT
NM_001406669.1:c.-691_-689delGAAinsTT
NM_001406672.1:c.778_780delGAAinsTT
NM_001406674.1:c.778_780delGAAinsTT
NP_000242.1:p.Glu260Leufs
NP_000242.1:p.Glu260fs
NP_001245210.1:p.Glu194fs
NP_001393560.1:p.Glu260Leufs
NP_001393561.1:p.Glu260Leufs
NP_001393562.1:p.Glu260Leufs
NP_001393563.1:p.Glu260Leufs
NP_001393564.1:p.Glu260Leufs
NP_001393565.1:p.Glu260Leufs
NP_001393566.1:p.Glu260Leufs
NP_001393567.1:p.Glu260Leufs
NP_001393568.1:p.Glu260Leufs
NP_001393569.1:p.Glu260Leufs
NP_001393570.1:p.Glu260Leufs
NP_001393571.1:p.Glu260Leufs
NP_001393572.1:p.Glu260Leufs
NP_001393573.1:p.Glu260Leufs
NP_001393574.1:p.Glu260Leufs
NP_001393575.1:p.Glu260Leufs
NP_001393576.1:p.Glu260Leufs
NP_001393577.1:p.Glu260Leufs
NP_001393578.1:p.Glu260Leufs
NP_001393579.1:p.Glu260Leufs
NP_001393580.1:p.Glu260Leufs
NP_001393581.1:p.Glu260Leufs
NP_001393582.1:p.Glu240Leufs
NP_001393583.1:p.Glu120Leufs
NP_001393584.1:p.Glu260Leufs
NP_001393586.1:p.Glu260Leufs
NP_001393595.1:p.Glu260Leufs
NP_001393601.1:p.Glu260Leufs
NP_001393603.1:p.Glu260Leufs
LRG_218t1:c.778_780delGAAinsTT
LRG_218:g.14423_14425delinsTT
LRG_218p1:p.Glu260Leufs
NC_000002.11:g.47639685_47639687delinsTT
NM_000251.1:c.778_780delGAAinsTT
NM_000251.2:c.778_780delGAAinsTT
NR_176230.1:n.814_816delGAAinsTT
NR_176231.1:n.814_816delGAAinsTT
NR_176232.1:n.814_816delGAAinsTT
NR_176233.1:n.806_808delGAAinsTT
NR_176234.1:n.814_816delGAAinsTT
NR_176235.1:n.814_816delGAAinsTT
NR_176236.1:n.814_816delGAAinsTT
NR_176237.1:n.814_816delGAAinsTT
NR_176238.1:n.814_816delGAAinsTT
NR_176239.1:n.814_816delGAAinsTT
NR_176240.1:n.814_816delGAAinsTT
NR_176241.1:n.814_816delGAAinsTT
NR_176242.1:n.814_816delGAAinsTT
NR_176243.1:n.814_816delGAAinsTT
NR_176244.1:n.814_816delGAAinsTT
NR_176245.1:n.814_816delGAAinsTT
NR_176246.1:n.814_816delGAAinsTT
NR_176247.1:n.814_816delGAAinsTT
NR_176248.1:n.814_816delGAAinsTT
NR_176249.1:n.814_816delGAAinsTT
NR_176250.1:n.814_816delGAAinsTT

Protein change:

E194fs

Molecular consequence:

NM_000251.3:c.778_780delinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001258281.1:c.580_582delinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406631.1:c.778_780delGAAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406632.1:c.778_780delGAAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406633.1:c.778_780delGAAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406634.1:c.778_780delGAAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406635.1:c.778_780delGAAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406636.1:c.778_780delGAAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406637.1:c.778_780delGAAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406638.1:c.778_780delGAAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406639.1:c.778_780delGAAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406640.1:c.778_780delGAAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406641.1:c.778_780delGAAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406642.1:c.778_780delGAAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406643.1:c.778_780delGAAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406644.1:c.778_780delGAAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406645.1:c.778_780delGAAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406646.1:c.778_780delGAAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406647.1:c.778_780delGAAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406648.1:c.778_780delGAAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406649.1:c.778_780delGAAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406650.1:c.778_780delGAAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406651.1:c.778_780delGAAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406652.1:c.778_780delGAAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406653.1:c.718_720delGAAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406654.1:c.358_360delGAAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406655.1:c.778_780delGAAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406657.1:c.778_780delGAAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406666.1:c.778_780delGAAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406672.1:c.778_780delGAAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406674.1:c.778_780delGAAinsTT - 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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CG31301 uncharacterized protein [Drosophila melanogaster]
CG31301 uncharacterized protein [Drosophila melanogaster]
Gene ID:41865

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002673003	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Sep 10, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002673003

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Sep 10, 2020)

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, SCV002673003.2

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

Description

The c.778_780delGAAinsTT pathogenic mutation, located in coding exon 4 of the MSH2 gene, results from the deletion of 3 nucleotides and insertion of two nucleotides causing a translational frameshift with a predicted alternate stop codon (p.E260Lfs*14). 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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