NM_000251.3(MSH2):c.2152C>T (p.Gln718Ter) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 12, 2016
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:: RCV000506389.2

Allele description [Variation Report for NM_000251.3(MSH2):c.2152C>T (p.Gln718Ter)]

NM_000251.3(MSH2):c.2152C>T (p.Gln718Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2p21

Genomic location:

Preferred name:

NM_000251.3(MSH2):c.2152C>T (p.Gln718Ter)

HGVS:

NC_000002.12:g.47476513C>T
NG_007110.2:g.78390C>T
NM_000251.3:c.2152C>TMANE SELECT
NM_001258281.1:c.1954C>T
NP_000242.1:p.Gln718Ter
NP_000242.1:p.Gln718Ter
NP_001245210.1:p.Gln652Ter
LRG_218t1:c.2152C>T
LRG_218:g.78390C>T
LRG_218p1:p.Gln718Ter
NC_000002.11:g.47703652C>T
NM_000251.1:c.2152C>T
NM_000251.2:c.2152C>T
p.Gln718*

Protein change:

Q652*

Links:

dbSNP: rs587779139

NCBI 1000 Genomes Browser:

rs587779139

Molecular consequence:

NM_000251.3:c.2152C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001258281.1:c.1954C>T - nonsense - [Sequence Ontology: SO:0001587]

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
SCV000601458	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Pathogenic (Aug 12, 2016)	germline	clinical testing	PubMed (6) [See all records that cite these PMIDs] 21681552, 10612836, 11910346, 15222003, 27007491, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000601458

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(Quest Diagnostics criteria)

Pathogenic
(Aug 12, 2016)

germline

clinical testing

PubMed (6)
[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	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Characterization of germline mutations of MLH1 and MSH2 in unrelated south American suspected Lynch syndrome individuals.

Valentin MD, da Silva FC, dos Santos EM, Lisboa BG, de Oliveira LP, Ferreira Fde O, Gomy I, Nakagawa WT, Aguiar Junior S, Redal M, Vaccaro C, Valle AD, Sarroca C, Carraro DM, Rossi BM.

Fam Cancer. 2011 Dec;10(4):641-7. doi: 10.1007/s10689-011-9461-y.

PubMed [citation]

PMID:: 21681552

Four novel MSH2 / MLH1 gene mutations in portuguese HNPCC families.

Isidro G, Veiga I, Matos P, Almeida S, Bizarro S, Marshall B, Baptista M, Leite J, Regateiro F, Soares J, Castedo S, Boavida MG.

Hum Mutat. 2000 Jan;15(1):116.

PubMed [citation]

PMID:: 10612836

See all PubMed Citations (6)

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000601458.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (6)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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