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NM_000251.3(MSH2):c.2055A>G (p.Ile685Met) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Sep 2, 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:
RCV001014247.6

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)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001174934Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Uncertain significance
(Sep 2, 2023)
germlineclinical testing

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

Citation Link,

SCV001343631Color Diagnostics, LLC DBA Color Health
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significance
(Jan 4, 2019)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

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

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Ambry Genetics, SCV001174934.5

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

Description

The p.I685M variant (also known as c.2055A>G), located in coding exon 13 of the MSH2 gene, results from an A to G substitution at nucleotide position 2055. The isoleucine at codon 685 is replaced by methionine, an amino acid with highly similar properties. This alteration was identified in a Chinese hereditary breast cancer family (Dong L et al. Cancer Biol Med, 2021 Sep;19:850-70). This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

From Color Diagnostics, LLC DBA Color Health, SCV001343631.1

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

Last Updated: Sep 29, 2024