NM_000251.3(MSH2):c.1145G>A (p.Arg382His) AND Lynch syndrome 1

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Mar 23, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000663061.2

Allele description [Variation Report for NM_000251.3(MSH2):c.1145G>A (p.Arg382His)]

NM_000251.3(MSH2):c.1145G>A (p.Arg382His)

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.1145G>A (p.Arg382His)

HGVS:

NC_000002.12:g.47429810G>A
NG_007110.2:g.31687G>A
NM_000251.3:c.1145G>AMANE SELECT
NM_001258281.1:c.947G>A
NP_000242.1:p.Arg382His
NP_000242.1:p.Arg382His
NP_001245210.1:p.Arg316His
LRG_218t1:c.1145G>A
LRG_218:g.31687G>A
LRG_218p1:p.Arg382His
NC_000002.11:g.47656949G>A
NM_000251.1:c.1145G>A
NM_000251.2:c.1145G>A

Protein change:

R316H

Links:

dbSNP: rs267607947

NCBI 1000 Genomes Browser:

rs267607947

Molecular consequence:

NM_000251.3:c.1145G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001258281.1:c.947G>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000786122	Counsyl	criteria provided, single submitter (Counsyl Autosomal Dominant Disease Classification criteria (2015))	Uncertain significance (Feb 27, 2018)	unknown	clinical testing	PubMed (5) [See all records that cite these PMIDs] 18257912, 25525159, 26333163, 23760103, 26951660 Counsyl_Autosomal_Dominant_Disease_Classification_criteria_(2015)_v1.pdf, Citation Link,
SCV004018417	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))	Uncertain significance (Mar 23, 2023)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000786122

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Dominant Disease Classification criteria (2015))

Uncertain significance
(Feb 27, 2018)

unknown

clinical testing

PubMed (5)
[See all records that cite these PMIDs]

Counsyl_Autosomal_Dominant_Disease_Classification_criteria_(2015)_v1.pdf,

Citation Link,

SCV004018417

Myriad Genetics, Inc.

criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))

Uncertain significance
(Mar 23, 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

Citations

PubMed

Detection of mismatch repair gene germline mutation carrier among Chinese population with colorectal cancer.

Jin HY, Liu X, Li VK, Ding Y, Yang B, Geng J, Lai R, Ding S, Ni M, Zhao R.

BMC Cancer. 2008 Feb 7;8:44. doi: 10.1186/1471-2407-8-44.

PubMed [citation]

PMID:: 18257912
PMCID:: PMC2275286

RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

Xiong HY, Alipanahi B, Lee LJ, Bretschneider H, Merico D, Yuen RK, Hua Y, Gueroussov S, Najafabadi HS, Hughes TR, Morris Q, Barash Y, Krainer AR, Jojic N, Scherer SW, Blencowe BJ, Frey BJ.

Science. 2015 Jan 9;347(6218):1254806. doi: 10.1126/science.1254806. Epub 2014 Dec 18.

PubMed [citation]

PMID:: 25525159
PMCID:: PMC4362528

See all PubMed Citations (5)

Details of each submission

From Counsyl, SCV000786122.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (5)

#	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

From Myriad Genetics, Inc., SCV004018417.1

#	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 classified as a variant of uncertain significance as there is insufficient evidence to determine its impact on protein function and/or cancer risk.

#	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: Apr 20, 2024

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