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NM_000251.3(MSH2):c.2055A>G (p.Ile685Met) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 7, 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:
RCV000759109.4

Allele description [Variation Report for NM_000251.3(MSH2):c.2055A>G (p.Ile685Met)]

NM_000251.3(MSH2):c.2055A>G (p.Ile685Met)

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.2055A>G (p.Ile685Met)
HGVS:
  • NC_000002.12:g.47476416A>G
  • NG_007110.2:g.78293A>G
  • NM_000251.3:c.2055A>GMANE SELECT
  • NM_001258281.1:c.1857A>G
  • NP_000242.1:p.Ile685Met
  • NP_000242.1:p.Ile685Met
  • NP_001245210.1:p.Ile619Met
  • LRG_218t1:c.2055A>G
  • LRG_218:g.78293A>G
  • LRG_218p1:p.Ile685Met
  • NC_000002.11:g.47703555A>G
  • NM_000251.1:c.2055A>G
  • NM_000251.2:c.2055A>G
Protein change:
I619M
Links:
dbSNP: rs989001878
NCBI 1000 Genomes Browser:
rs989001878
Molecular consequence:
  • NM_000251.3:c.2055A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258281.1:c.1857A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000888215Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)		Uncertain significance
(Sep 7, 2023) 		unknownclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

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

The mutation landscape of multiple cancer predisposition genes in Chinese familial/hereditary breast cancer families.

Dong L, Zhang H, Zhang H, Ye Y, Cheng Y, Li L, Wei L, Han L, Cao Y, Li S, Hao X, Liu J, Yu J.

Cancer Biol Med. 2021 Sep 28;19(6). doi:pii: j.issn.2095-3941.2021.0011. 10.20892/j.issn.2095-3941.2021.0011.

PubMed [citation]
PMID:
34570441
PMCID:
PMC9257317
See all PubMed Citations (3)

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000888215.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

In the published literature, this variant has been reported in an unaffected individual (PMID: 34570441 (2021)). This variant has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded conflicting predictions that this variant is benign or damaging. Based on the available information, we are unable to determine the clinical significance of this variant.

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

Last Updated: Sep 29, 2024