NM_000251.3(MSH2):c.2362dup (p.Thr788fs) 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:: RCV003452908.1

Allele description [Variation Report for NM_000251.3(MSH2):c.2362dup (p.Thr788fs)]

NM_000251.3(MSH2):c.2362dup (p.Thr788fs)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

2p21

Genomic location:

Preferred name:

NM_000251.3(MSH2):c.2362dup (p.Thr788fs)

HGVS:

NC_000002.12:g.47478423dup
NG_007110.2:g.80300dup
NM_000251.3:c.2362dupMANE SELECT
NM_001258281.1:c.2164dup
NP_000242.1:p.Thr788fs
NP_000242.1:p.Thr788fs
NP_001245210.1:p.Thr722fs
LRG_218t1:c.2362dup
LRG_218:g.80300dup
LRG_218p1:p.Thr788fs
NC_000002.11:g.47705561_47705562insA
NC_000002.11:g.47705562dup
NM_000251.1:c.2362dup
NM_000251.1:c.2362dupA
NM_000251.2:c.2362dup
NM_000251.2:c.2362dupA

Protein change:

T722fs

Links:

dbSNP: rs63750463

NCBI 1000 Genomes Browser:

rs63750463

Molecular consequence:

NM_000251.3:c.2362dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001258281.1:c.2164dup - 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
SCV004188055	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

SCV004188055

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., SCV004188055.1

#	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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