NM_000251.3(MSH2):c.34dup (p.Glu12fs) AND not provided

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Sep 17, 2019
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:: RCV000202253.7

Allele description [Variation Report for NM_000251.3(MSH2):c.34dup (p.Glu12fs)]

NM_000251.3(MSH2):c.34dup (p.Glu12fs)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

2p21

Genomic location:

Preferred name:

NM_000251.3(MSH2):c.34dup (p.Glu12fs)

HGVS:

NC_000002.12:g.47403225dup
NG_007110.2:g.5102dup
NM_000251.3:c.34dupMANE SELECT
NM_001258281.1:c.-31+50dup
NP_000242.1:p.Glu12fs
NP_000242.1:p.Glu12fs
LRG_218t1:c.34dup
LRG_218:g.5102dup
LRG_218p1:p.Glu12fs
NC_000002.11:g.47630362_47630363insG
NC_000002.11:g.47630364dup
NM_000251.1:c.34dup
NM_000251.1:c.34dupG
NM_000251.2:c.34dup
NM_000251.2:c.34dupG

Protein change:

E12fs

Links:

dbSNP: rs63750614

NCBI 1000 Genomes Browser:

rs63750614

Molecular consequence:

NM_000251.3:c.34dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001258281.1:c.-31+50dup - intron variant - [Sequence Ontology: SO:0001627]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000257186	Mayo Clinic Laboratories, Mayo Clinic	no assertion criteria provided	Pathogenic	unknown	research
SCV001470550	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Pathogenic (Sep 17, 2019)	unknown	clinical testing	PubMed (4) [See all records that cite these PMIDs] 14504054, 15862756, 21550136, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000257186

Mayo Clinic Laboratories, Mayo Clinic

no assertion criteria provided

Pathogenic

unknown

research

SCV001470550

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(Quest Diagnostics criteria)

Pathogenic
(Sep 17, 2019)

unknown

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	1	not provided	not provided	not provided	not provided	clinical testing, research

Citations

PubMed

Microsatellite instability and mutation analysis among southern Italian patients with colorectal carcinoma: detection of different alterations accounting for MLH1 and MSH2 inactivation in familial cases.

Colombino M, Cossu A, Arba A, Manca A, Curci A, Avallone A, Comella G, Botti G, Scintu F, Amoruso M, D'Abbicco D, d'Agnessa MR, Spanu A, Tanda F, Palmieri G.

Ann Oncol. 2003 Oct;14(10):1530-6.

PubMed [citation]

PMID:: 14504054

Identification of predictive factors for the occurrence of predisposing MLH1 and MSH2 germline mutations among Sardinian patients with colorectal carcinoma.

Colombino M, Cossu A, Budroni M, Satta MP, Baldinu P, Casula M, Palomba G, Pisano M, Sini MC, Deiana A, Tanda F, Palmieri G.

Eur J Cancer. 2005 May;41(7):1058-64.

PubMed [citation]

PMID:: 15862756

See all PubMed Citations (4)

Details of each submission

From Mayo Clinic Laboratories, Mayo Clinic, SCV000257186.1

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

#	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		1	not provided	not provided	not provided

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV001470550.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

Description

This frameshift variant causes the premature termination of MSH2 protein synthesis. In the published literature, this variant has been reported in individuals affected with colorectal cancer and Muir-Torre syndrome (PMID: 14504054 (2003), 15862756 (2005), 21550136 (2011)). Based on the available information, this variant has been classified as pathogenic.

#	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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