NM_000251.3(MSH2):c.2325dup (p.Ala776fs) AND Lynch syndrome 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 8, 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:: RCV003455462.1

Allele description [Variation Report for NM_000251.3(MSH2):c.2325dup (p.Ala776fs)]

NM_000251.3(MSH2):c.2325dup (p.Ala776fs)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

2p21

Genomic location:

Preferred name:

NM_000251.3(MSH2):c.2325dup (p.Ala776fs)

HGVS:

NC_000002.12:g.47478386dup
NG_007110.2:g.80263dup
NM_000251.3:c.2325dupMANE SELECT
NM_001258281.1:c.2127dup
NM_001406631.1:c.2325dup
NM_001406632.1:c.2325dup
NM_001406633.1:c.2325dup
NM_001406634.1:c.2325dup
NM_001406635.1:c.2325dup
NM_001406636.1:c.2292dup
NM_001406637.1:c.2325dup
NM_001406638.1:c.2364dup
NM_001406639.1:c.2325dup
NM_001406640.1:c.2325dup
NM_001406641.1:c.2325dup
NM_001406642.1:c.2325dup
NM_001406643.1:c.2325dup
NM_001406644.1:c.2325dup
NM_001406645.1:c.2325dup
NM_001406646.1:c.2325dup
NM_001406647.1:c.2175dup
NM_001406648.1:c.2325dup
NM_001406649.1:c.2175dup
NM_001406650.1:c.2175dup
NM_001406651.1:c.2175dup
NM_001406652.1:c.2175dup
NM_001406653.1:c.2265dup
NM_001406654.1:c.1905dup
NM_001406656.1:c.1428dup
NM_001406658.1:c.969dup
NM_001406659.1:c.969dup
NM_001406660.1:c.969dup
NM_001406661.1:c.969dup
NM_001406662.1:c.969dup
NM_001406669.1:c.969dup
NM_001406674.1:c.2325dup
NP_000242.1:p.Ala776Cysfs
NP_000242.1:p.Ala776fs
NP_001245210.1:p.Ala710fs
NP_001393560.1:p.Ala776Cysfs
NP_001393561.1:p.Ala776Cysfs
NP_001393562.1:p.Ala776Cysfs
NP_001393563.1:p.Ala776Cysfs
NP_001393564.1:p.Ala776Cysfs
NP_001393565.1:p.Ala765Cysfs
NP_001393566.1:p.Ala776Cysfs
NP_001393567.1:p.Ala789Cysfs
NP_001393568.1:p.Ala776Cysfs
NP_001393569.1:p.Ala776Cysfs
NP_001393570.1:p.Ala776Cysfs
NP_001393571.1:p.Ala776Cysfs
NP_001393572.1:p.Ala776Cysfs
NP_001393573.1:p.Ala776Cysfs
NP_001393574.1:p.Ala776Cysfs
NP_001393575.1:p.Ala776Cysfs
NP_001393576.1:p.Ala726Cysfs
NP_001393577.1:p.Ala776Cysfs
NP_001393578.1:p.Ala726Cysfs
NP_001393579.1:p.Ala726Cysfs
NP_001393580.1:p.Ala726Cysfs
NP_001393581.1:p.Ala726Cysfs
NP_001393582.1:p.Ala756Cysfs
NP_001393583.1:p.Ala636Cysfs
NP_001393585.1:p.Ala477Cysfs
NP_001393587.1:p.Ala324Cysfs
NP_001393588.1:p.Ala324Cysfs
NP_001393589.1:p.Ala324Cysfs
NP_001393590.1:p.Ala324Cysfs
NP_001393591.1:p.Ala324Cysfs
NP_001393598.1:p.Ala324Cysfs
NP_001393603.1:p.Ala776Cysfs
LRG_218t1:c.2325dup
LRG_218:g.80263dup
LRG_218p1:p.Ala776Cysfs
NC_000002.11:g.47705525dup
NM_000251.1:c.2325dupT
NM_000251.2:c.2325dup
NR_176230.1:n.2361dup
NR_176231.1:n.2329dup
NR_176232.1:n.2361dup
NR_176233.1:n.2203dup
NR_176234.1:n.2361dup
NR_176235.1:n.2361dup
NR_176236.1:n.2361dup
NR_176237.1:n.2361dup
NR_176238.1:n.2494dup
NR_176239.1:n.2361dup
NR_176240.1:n.2156dup
NR_176241.1:n.2361dup
NR_176242.1:n.2361dup
NR_176243.1:n.2211dup
NR_176244.1:n.2361dup
NR_176245.1:n.2361dup
NR_176246.1:n.2361dup
NR_176247.1:n.2361dup
NR_176248.1:n.2361dup
NR_176249.1:n.2591dup
NR_176250.1:n.2101dup

Protein change:

A710fs

Molecular consequence:

NM_000251.3:c.2325dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001258281.1:c.2127dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406631.1:c.2325dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406632.1:c.2325dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406633.1:c.2325dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406634.1:c.2325dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406635.1:c.2325dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406636.1:c.2292dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406637.1:c.2325dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406638.1:c.2364dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406639.1:c.2325dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406640.1:c.2325dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406641.1:c.2325dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406642.1:c.2325dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406643.1:c.2325dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406644.1:c.2325dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406645.1:c.2325dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406646.1:c.2325dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406647.1:c.2175dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406648.1:c.2325dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406649.1:c.2175dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406650.1:c.2175dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406651.1:c.2175dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406652.1:c.2175dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406653.1:c.2265dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406654.1:c.1905dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406656.1:c.1428dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406658.1:c.969dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406659.1:c.969dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406660.1:c.969dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406661.1:c.969dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406662.1:c.969dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406669.1:c.969dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406674.1:c.2325dup - 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
SCV004186791	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))	Pathogenic (Aug 8, 2023)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004186791

Myriad Genetics, Inc.

criteria provided, single submitter

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

Pathogenic
(Aug 8, 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., SCV004186791.1

#	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

ClinVar

Relating variation to medicine