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NM_000251.3(MSH2):c.1865C>G (p.Pro622Arg) AND Lynch syndrome 1

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Aug 4, 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:
RCV003454782.1

Allele description [Variation Report for NM_000251.3(MSH2):c.1865C>G (p.Pro622Arg)]

NM_000251.3(MSH2):c.1865C>G (p.Pro622Arg)

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.1865C>G (p.Pro622Arg)
HGVS:
  • NC_000002.12:g.47475130C>G
  • NG_007110.2:g.77007C>G
  • NM_000251.3:c.1865C>GMANE SELECT
  • NM_001258281.1:c.1667C>G
  • NP_000242.1:p.Pro622Arg
  • NP_000242.1:p.Pro622Arg
  • NP_001245210.1:p.Pro556Arg
  • LRG_218t1:c.1865C>G
  • LRG_218:g.77007C>G
  • LRG_218p1:p.Pro622Arg
  • NC_000002.11:g.47702269C>G
  • NM_000251.1:c.1865C>G
  • NM_000251.2:c.1865C>G
Protein change:
P556R
Links:
dbSNP: rs28929483
NCBI 1000 Genomes Browser:
rs28929483
Molecular consequence:
  • NM_000251.3:c.1865C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258281.1:c.1667C>G - 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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004186682Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))		Likely pathogenic
(Aug 4, 2023) 		unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Massively parallel functional testing of MSH2 missense variants conferring Lynch syndrome risk.

Jia X, Burugula BB, Chen V, Lemons RM, Jayakody S, Maksutova M, Kitzman JO.

Am J Hum Genet. 2021 Jan 7;108(1):163-175. doi: 10.1016/j.ajhg.2020.12.003. Epub 2020 Dec 23.

PubMed [citation]
PMID:
33357406
PMCID:
PMC7820803

Details of each submission

From Myriad Genetics, Inc., SCV004186682.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant is considered likely pathogenic. This variant is expected to disrupt protein structure [Myriad internal data]. Functional studies indicate this variant impacts protein function [PMID: 33357406].

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2024