NM_000251.3(MSH2):c.1785dup (p.Asn596fs) AND Lynch syndrome 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 3, 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:: RCV003455656.1

Allele description [Variation Report for NM_000251.3(MSH2):c.1785dup (p.Asn596fs)]

NM_000251.3(MSH2):c.1785dup (p.Asn596fs)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

2p21

Genomic location:

Preferred name:

NM_000251.3(MSH2):c.1785dup (p.Asn596fs)

HGVS:

NC_000002.12:g.47475050dup
NG_007110.2:g.76927dup
NM_000251.3:c.1785dupMANE SELECT
NM_001258281.1:c.1587dup
NM_001406631.1:c.1785dup
NM_001406632.1:c.1785dup
NM_001406633.1:c.1785dup
NM_001406634.1:c.1785dup
NM_001406635.1:c.1785dup
NM_001406636.1:c.1752dup
NM_001406637.1:c.1785dup
NM_001406638.1:c.1824dup
NM_001406639.1:c.1785dup
NM_001406640.1:c.1785dup
NM_001406641.1:c.1785dup
NM_001406642.1:c.1785dup
NM_001406643.1:c.1785dup
NM_001406644.1:c.1785dup
NM_001406645.1:c.1785dup
NM_001406646.1:c.1785dup
NM_001406647.1:c.1635dup
NM_001406648.1:c.1785dup
NM_001406649.1:c.1635dup
NM_001406650.1:c.1635dup
NM_001406651.1:c.1635dup
NM_001406652.1:c.1635dup
NM_001406653.1:c.1725dup
NM_001406654.1:c.1365dup
NM_001406655.1:c.1785dup
NM_001406656.1:c.888dup
NM_001406657.1:c.1687dup
NM_001406658.1:c.429dup
NM_001406659.1:c.429dup
NM_001406660.1:c.429dup
NM_001406661.1:c.429dup
NM_001406662.1:c.429dup
NM_001406669.1:c.429dup
NM_001406674.1:c.1785dup
NP_000242.1:p.Asn596Glnfs
NP_000242.1:p.Asn596fs
NP_001245210.1:p.Asn530fs
NP_001393560.1:p.Asn596Glnfs
NP_001393561.1:p.Asn596Glnfs
NP_001393562.1:p.Asn596Glnfs
NP_001393563.1:p.Asn596Glnfs
NP_001393564.1:p.Asn596Glnfs
NP_001393565.1:p.Asn585Glnfs
NP_001393566.1:p.Asn596Glnfs
NP_001393567.1:p.Asn609Glnfs
NP_001393568.1:p.Asn596Glnfs
NP_001393569.1:p.Asn596Glnfs
NP_001393570.1:p.Asn596Glnfs
NP_001393571.1:p.Asn596Glnfs
NP_001393572.1:p.Asn596Glnfs
NP_001393573.1:p.Asn596Glnfs
NP_001393574.1:p.Asn596Glnfs
NP_001393575.1:p.Asn596Glnfs
NP_001393576.1:p.Asn546Glnfs
NP_001393577.1:p.Asn596Glnfs
NP_001393578.1:p.Asn546Glnfs
NP_001393579.1:p.Asn546Glnfs
NP_001393580.1:p.Asn546Glnfs
NP_001393581.1:p.Asn546Glnfs
NP_001393582.1:p.Asn576Glnfs
NP_001393583.1:p.Asn456Glnfs
NP_001393584.1:p.Asn596Glnfs
NP_001393585.1:p.Asn297Glnfs
NP_001393586.1:p.Gln563Profs
NP_001393587.1:p.Asn144Glnfs
NP_001393588.1:p.Asn144Glnfs
NP_001393589.1:p.Asn144Glnfs
NP_001393590.1:p.Asn144Glnfs
NP_001393591.1:p.Asn144Glnfs
NP_001393598.1:p.Asn144Glnfs
NP_001393603.1:p.Asn596Glnfs
LRG_218t1:c.1785dup
LRG_218:g.76927dup
LRG_218p1:p.Asn596Glnfs
NC_000002.11:g.47702188_47702189insC
NC_000002.11:g.47702189dup
NM_000251.2:c.1785dup
NR_176230.1:n.1821dup
NR_176231.1:n.1821dup
NR_176232.1:n.1821dup
NR_176233.1:n.1663dup
NR_176234.1:n.1821dup
NR_176235.1:n.1821dup
NR_176236.1:n.1821dup
NR_176237.1:n.1821dup
NR_176238.1:n.1954dup
NR_176239.1:n.1821dup
NR_176240.1:n.1821dup
NR_176241.1:n.1821dup
NR_176242.1:n.1821dup
NR_176243.1:n.1671dup
NR_176244.1:n.1821dup
NR_176245.1:n.1821dup
NR_176246.1:n.1821dup
NR_176247.1:n.1821dup
NR_176248.1:n.1821dup
NR_176249.1:n.2051dup
NR_176250.1:n.1561dup

Protein change:

N530fs

Molecular consequence:

NM_000251.3:c.1785dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001258281.1:c.1587dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406631.1:c.1785dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406632.1:c.1785dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406633.1:c.1785dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406634.1:c.1785dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406635.1:c.1785dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406636.1:c.1752dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406637.1:c.1785dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406638.1:c.1824dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406639.1:c.1785dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406640.1:c.1785dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406641.1:c.1785dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406642.1:c.1785dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406643.1:c.1785dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406644.1:c.1785dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406645.1:c.1785dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406646.1:c.1785dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406647.1:c.1635dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406648.1:c.1785dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406649.1:c.1635dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406650.1:c.1635dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406651.1:c.1635dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406652.1:c.1635dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406653.1:c.1725dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406654.1:c.1365dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406655.1:c.1785dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406656.1:c.888dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406657.1:c.1687dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406658.1:c.429dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406659.1:c.429dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406660.1:c.429dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406661.1:c.429dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406662.1:c.429dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406669.1:c.429dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406674.1:c.1785dup - 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

Recent activity

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S41 family peptidase [Mesobacillus jeotgali]
S41 family peptidase [Mesobacillus jeotgali]
gi|2324481230|gnl|PRJNA309469|FOF60 0|gb|UYZ21562.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004186810	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))	Pathogenic (Aug 3, 2023)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004186810

Myriad Genetics, Inc.

criteria provided, single submitter

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

Pathogenic
(Aug 3, 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., SCV004186810.1

#	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: Sep 29, 2024

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Relating variation to medicine