NM_000251.3(MSH2):c.2263del (p.Ser755fs) 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:: RCV003450194.1

Allele description [Variation Report for NM_000251.3(MSH2):c.2263del (p.Ser755fs)]

NM_000251.3(MSH2):c.2263del (p.Ser755fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

2p21

Genomic location:

Preferred name:

NM_000251.3(MSH2):c.2263del (p.Ser755fs)

HGVS:

NC_000002.12:g.47478324del
NG_007110.2:g.80201del
NM_000251.1:c.2263delT
NM_000251.3:c.2263delMANE SELECT
NM_001258281.1:c.2065del
NM_001406631.1:c.2263del
NM_001406632.1:c.2263del
NM_001406633.1:c.2263del
NM_001406634.1:c.2263del
NM_001406635.1:c.2263del
NM_001406636.1:c.2230del
NM_001406637.1:c.2263del
NM_001406638.1:c.2302del
NM_001406639.1:c.2263del
NM_001406640.1:c.2263del
NM_001406641.1:c.2263del
NM_001406642.1:c.2263del
NM_001406643.1:c.2263del
NM_001406644.1:c.2263del
NM_001406645.1:c.2263del
NM_001406646.1:c.2263del
NM_001406647.1:c.2113del
NM_001406648.1:c.2263del
NM_001406649.1:c.2113del
NM_001406650.1:c.2113del
NM_001406651.1:c.2113del
NM_001406652.1:c.2113del
NM_001406653.1:c.2203del
NM_001406654.1:c.1843del
NM_001406656.1:c.1366del
NM_001406658.1:c.907del
NM_001406659.1:c.907del
NM_001406660.1:c.907del
NM_001406661.1:c.907del
NM_001406662.1:c.907del
NM_001406669.1:c.907del
NM_001406674.1:c.2263del
NP_000242.1:p.Ser755Leufs
NP_000242.1:p.Ser755fs
NP_001245210.1:p.Ser689fs
NP_001393560.1:p.Ser755fs
NP_001393561.1:p.Ser755fs
NP_001393562.1:p.Ser755fs
NP_001393563.1:p.Ser755fs
NP_001393564.1:p.Ser755fs
NP_001393565.1:p.Ser744fs
NP_001393566.1:p.Ser755fs
NP_001393567.1:p.Ser768fs
NP_001393568.1:p.Ser755fs
NP_001393569.1:p.Ser755fs
NP_001393570.1:p.Ser755fs
NP_001393571.1:p.Ser755fs
NP_001393572.1:p.Ser755fs
NP_001393573.1:p.Ser755fs
NP_001393574.1:p.Ser755fs
NP_001393575.1:p.Ser755fs
NP_001393576.1:p.Ser705fs
NP_001393577.1:p.Ser755fs
NP_001393578.1:p.Ser705fs
NP_001393579.1:p.Ser705fs
NP_001393580.1:p.Ser705fs
NP_001393581.1:p.Ser705fs
NP_001393582.1:p.Ser735fs
NP_001393583.1:p.Ser615fs
NP_001393585.1:p.Ser456fs
NP_001393587.1:p.Ser303fs
NP_001393588.1:p.Ser303fs
NP_001393589.1:p.Ser303fs
NP_001393590.1:p.Ser303fs
NP_001393591.1:p.Ser303fs
NP_001393598.1:p.Ser303fs
NP_001393603.1:p.Ser755fs
LRG_218t1:c.2263del
LRG_218:g.80201del
LRG_218p1:p.Ser755Leufs
NC_000002.11:g.47705463del
NM_000251.2:c.2263delT
NR_176230.1:n.2299del
NR_176231.1:n.2267del
NR_176232.1:n.2299del
NR_176233.1:n.2141del
NR_176234.1:n.2299del
NR_176235.1:n.2299del
NR_176236.1:n.2299del
NR_176237.1:n.2299del
NR_176238.1:n.2432del
NR_176239.1:n.2299del
NR_176240.1:n.2094del
NR_176241.1:n.2299del
NR_176242.1:n.2299del
NR_176243.1:n.2149del
NR_176244.1:n.2299del
NR_176245.1:n.2299del
NR_176246.1:n.2299del
NR_176247.1:n.2299del
NR_176248.1:n.2299del
NR_176249.1:n.2529del
NR_176250.1:n.2039del

Protein change:

S303fs

Molecular consequence:

NM_000251.3:c.2263del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001258281.1:c.2065del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406631.1:c.2263del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406632.1:c.2263del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406633.1:c.2263del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406634.1:c.2263del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406635.1:c.2263del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406636.1:c.2230del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406637.1:c.2263del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406638.1:c.2302del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406639.1:c.2263del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406640.1:c.2263del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406641.1:c.2263del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406642.1:c.2263del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406643.1:c.2263del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406644.1:c.2263del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406645.1:c.2263del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406646.1:c.2263del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406647.1:c.2113del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406648.1:c.2263del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406649.1:c.2113del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406650.1:c.2113del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406651.1:c.2113del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406652.1:c.2113del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406653.1:c.2203del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406654.1:c.1843del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406656.1:c.1366del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406658.1:c.907del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406659.1:c.907del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406660.1:c.907del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406661.1:c.907del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406662.1:c.907del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406669.1:c.907del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406674.1:c.2263del - frameshift variant - [Sequence Ontology: SO:0001589]
NR_176230.1:n.2299del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176231.1:n.2267del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176232.1:n.2299del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176233.1:n.2141del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176234.1:n.2299del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176235.1:n.2299del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176236.1:n.2299del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176237.1:n.2299del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176238.1:n.2432del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176239.1:n.2299del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176240.1:n.2094del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176241.1:n.2299del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176242.1:n.2299del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176243.1:n.2149del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176244.1:n.2299del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176245.1:n.2299del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176246.1:n.2299del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176247.1:n.2299del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176248.1:n.2299del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176249.1:n.2529del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176250.1:n.2039del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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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nuclear autoantigenic sperm protein isoform 2 [Homo sapiens]
nuclear autoantigenic sperm protein isoform 2 [Homo sapiens]
gi|27262628|ref|NP_002473.2|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004188971	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

SCV004188971

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., SCV004188971.1

#	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: Aug 11, 2024

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