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NM_000251.3(MSH2):c.1865C>G (p.Pro622Arg) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 27, 2017
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:
RCV000506471.2

Allele description

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)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000601444Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)		Uncertain significance
(Apr 27, 2017) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants.

Drost M, Zonneveld JB, van Hees S, Rasmussen LJ, Hofstra RM, de Wind N.

Hum Mutat. 2012 Mar;33(3):488-94. doi: 10.1002/humu.22000. Epub 2011 Dec 29.

PubMed [citation]
PMID:
22102614

Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.

Thompson BA, Spurdle AB, Plazzer JP, Greenblatt MS, Akagi K, Al-Mulla F, Bapat B, Bernstein I, Capellá G, den Dunnen JT, du Sart D, Fabre A, Farrell MP, Farrington SM, Frayling IM, Frebourg T, Goldgar DE, Heinen CD, Holinski-Feder E, Kohonen-Corish M, Robinson KL, Leung SY, et al.

Nat Genet. 2014 Feb;46(2):107-115. doi: 10.1038/ng.2854. Epub 2013 Dec 22.

PubMed [citation]
PMID:
24362816
PMCID:
PMC4294709
See all PubMed Citations (4)

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000601444.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 23, 2024