NM_000251.3(MSH2):c.712del (p.Tyr238fs) AND Lynch syndrome 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 27, 2023
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:: RCV003454190.1

Allele description [Variation Report for NM_000251.3(MSH2):c.712del (p.Tyr238fs)]

NM_000251.3(MSH2):c.712del (p.Tyr238fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

2p21

Genomic location:

Preferred name:

NM_000251.3(MSH2):c.712del (p.Tyr238fs)

HGVS:

NC_000002.12:g.47412480del
NG_007110.2:g.14357del
NM_000251.3:c.712delMANE SELECT
NM_001258281.1:c.514del
NM_001406631.1:c.712delT
NM_001406632.1:c.712delT
NM_001406633.1:c.712delT
NM_001406634.1:c.712delT
NM_001406635.1:c.712delT
NM_001406636.1:c.712delT
NM_001406637.1:c.712delT
NM_001406638.1:c.712delT
NM_001406639.1:c.712delT
NM_001406640.1:c.712delT
NM_001406641.1:c.712delT
NM_001406642.1:c.712delT
NM_001406643.1:c.712delT
NM_001406644.1:c.712delT
NM_001406645.1:c.712delT
NM_001406646.1:c.712delT
NM_001406647.1:c.712delT
NM_001406648.1:c.712delT
NM_001406649.1:c.712delT
NM_001406650.1:c.712delT
NM_001406651.1:c.712delT
NM_001406652.1:c.712delT
NM_001406653.1:c.652delT
NM_001406654.1:c.292delT
NM_001406655.1:c.712delT
NM_001406656.1:c.-284delT
NM_001406657.1:c.712delT
NM_001406658.1:c.-607delT
NM_001406659.1:c.-757delT
NM_001406660.1:c.-954delT
NM_001406661.1:c.-909delT
NM_001406662.1:c.-826delT
NM_001406666.1:c.712delT
NM_001406669.1:c.-757delT
NM_001406672.1:c.712delT
NM_001406674.1:c.712delT
NP_000242.1:p.Tyr238Ilefs
NP_000242.1:p.Tyr238fs
NP_001245210.1:p.Tyr172fs
NP_001393560.1:p.Tyr238Ilefs
NP_001393561.1:p.Tyr238Ilefs
NP_001393562.1:p.Tyr238Ilefs
NP_001393563.1:p.Tyr238Ilefs
NP_001393564.1:p.Tyr238Ilefs
NP_001393565.1:p.Tyr238Ilefs
NP_001393566.1:p.Tyr238Ilefs
NP_001393567.1:p.Tyr238Ilefs
NP_001393568.1:p.Tyr238Ilefs
NP_001393569.1:p.Tyr238Ilefs
NP_001393570.1:p.Tyr238Ilefs
NP_001393571.1:p.Tyr238Ilefs
NP_001393572.1:p.Tyr238Ilefs
NP_001393573.1:p.Tyr238Ilefs
NP_001393574.1:p.Tyr238Ilefs
NP_001393575.1:p.Tyr238Ilefs
NP_001393576.1:p.Tyr238Ilefs
NP_001393577.1:p.Tyr238Ilefs
NP_001393578.1:p.Tyr238Ilefs
NP_001393579.1:p.Tyr238Ilefs
NP_001393580.1:p.Tyr238Ilefs
NP_001393581.1:p.Tyr238Ilefs
NP_001393582.1:p.Tyr218Ilefs
NP_001393583.1:p.Tyr98Ilefs
NP_001393584.1:p.Tyr238Ilefs
NP_001393586.1:p.Tyr238Ilefs
NP_001393595.1:p.Tyr238Ilefs
NP_001393601.1:p.Tyr238Ilefs
NP_001393603.1:p.Tyr238Ilefs
LRG_218t1:c.712del
LRG_218:g.14357del
LRG_218p1:p.Tyr238Ilefs
NC_000002.11:g.47639619del
NM_000251.1:c.712delT
NM_000251.2:c.712delT
NR_176230.1:n.748delT
NR_176231.1:n.748delT
NR_176232.1:n.748delT
NR_176233.1:n.740delT
NR_176234.1:n.748delT
NR_176235.1:n.748delT
NR_176236.1:n.748delT
NR_176237.1:n.748delT
NR_176238.1:n.748delT
NR_176239.1:n.748delT
NR_176240.1:n.748delT
NR_176241.1:n.748delT
NR_176242.1:n.748delT
NR_176243.1:n.748delT
NR_176244.1:n.748delT
NR_176245.1:n.748delT
NR_176246.1:n.748delT
NR_176247.1:n.748delT
NR_176248.1:n.748delT
NR_176249.1:n.748delT
NR_176250.1:n.748delT

Protein change:

Y172fs

Molecular consequence:

NM_000251.3:c.712del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001258281.1:c.514del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406631.1:c.712delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406632.1:c.712delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406633.1:c.712delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406634.1:c.712delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406635.1:c.712delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406636.1:c.712delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406637.1:c.712delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406638.1:c.712delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406639.1:c.712delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406640.1:c.712delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406641.1:c.712delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406642.1:c.712delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406643.1:c.712delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406644.1:c.712delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406645.1:c.712delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406646.1:c.712delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406647.1:c.712delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406648.1:c.712delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406649.1:c.712delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406650.1:c.712delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406651.1:c.712delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406652.1:c.712delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406653.1:c.652delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406654.1:c.292delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406655.1:c.712delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406657.1:c.712delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406666.1:c.712delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406672.1:c.712delT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406674.1:c.712delT - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Lynch syndrome 1
Synonyms:: COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1; MSH2-Related Hereditary Non-Polyposis Colon Cancer; Lynch syndrome I; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0007356; MedGen: C2936783; Orphanet: 144; OMIM: 120435

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004186923	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))	Pathogenic (Jul 27, 2023)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004186923

Myriad Genetics, Inc.

criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))

Pathogenic
(Jul 27, 2023)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Myriad Genetics, Inc., SCV004186923.1

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

Description

This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 9, 2024

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