NM_000251.3(MSH2):c.2420C>G (p.Thr807Ser) AND Hereditary cancer-predisposing syndrome

Germline classification:: Likely benign (1 submission)
Last evaluated:: Sep 1, 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:: RCV000573758.4

Allele description [Variation Report for NM_000251.3(MSH2):c.2420C>G (p.Thr807Ser)]

NM_000251.3(MSH2):c.2420C>G (p.Thr807Ser)

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.2420C>G (p.Thr807Ser)

HGVS:

NC_000002.12:g.47478481C>G
NG_007110.2:g.80358C>G
NM_000251.3:c.2420C>GMANE SELECT
NM_001258281.1:c.2222C>G
NP_000242.1:p.Thr807Ser
NP_000242.1:p.Thr807Ser
NP_001245210.1:p.Thr741Ser
LRG_218t1:c.2420C>G
LRG_218:g.80358C>G
LRG_218p1:p.Thr807Ser
NC_000002.11:g.47705620C>G
NM_000251.1:c.2420C>G
NM_000251.2:c.2420C>G
P43246:p.Thr807Ser

Protein change:

T741S

Links:

UniProtKB: P43246#VAR_038029; dbSNP: rs41295294

NCBI 1000 Genomes Browser:

rs41295294

Molecular consequence:

NM_000251.3:c.2420C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001258281.1:c.2222C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

Recent activity

Clear Turn Off Turn On

db25h02.y1 Xenopus laevis oocyte Xenopus laevis cDNA clone XENOPUS_SOURCE_ID: 5'...
db25h02.y1 Xenopus laevis oocyte Xenopus laevis cDNA clone XENOPUS_SOURCE_ID: 5', mRNA sequence
gi|8318974|gnl|dbEST|4548891|gb|BE0 .1|

Nucleotide

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000669834	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Likely benign (Sep 1, 2023)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 18033691, 26951660, 27601186, 33357406 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000669834

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Likely benign
(Sep 1, 2023)

germline

clinical testing

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

Citation Link

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

Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancer.

Barnetson RA, Cartwright N, van Vliet A, Haq N, Drew K, Farrington S, Williams N, Warner J, Campbell H, Porteous ME, Dunlop MG.

Hum Mutat. 2008 Mar;29(3):367-74.

PubMed [citation]

PMID:: 18033691

Oligonucleotide-directed mutagenesis screen to identify pathogenic Lynch syndrome-associated MSH2 DNA mismatch repair gene variants.

Houlleberghs H, Dekker M, Lantermans H, Kleinendorst R, Dubbink HJ, Hofstra RM, Verhoef S, Te Riele H.

Proc Natl Acad Sci U S A. 2016 Apr 12;113(15):4128-33. doi: 10.1073/pnas.1520813113. Epub 2016 Mar 7.

PubMed [citation]

PMID:: 26951660
PMCID:: PMC4839441

See all PubMed Citations (4)

Details of each submission

From Ambry Genetics, SCV000669834.6

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#	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

ClinVar

Relating variation to medicine