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NM_000251.3(MSH2):c.1828C>A (p.His610Asn) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 3, 2018
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:
RCV000428720.3

Allele description [Variation Report for NM_000251.3(MSH2):c.1828C>A (p.His610Asn)]

NM_000251.3(MSH2):c.1828C>A (p.His610Asn)

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.1828C>A (p.His610Asn)
HGVS:
  • NC_000002.12:g.47475093C>A
  • NG_007110.2:g.76970C>A
  • NM_000251.3:c.1828C>AMANE SELECT
  • NM_001258281.1:c.1630C>A
  • NP_000242.1:p.His610Asn
  • NP_000242.1:p.His610Asn
  • NP_001245210.1:p.His544Asn
  • LRG_218t1:c.1828C>A
  • LRG_218:g.76970C>A
  • LRG_218p1:p.His610Asn
  • NC_000002.11:g.47702232C>A
  • NM_000251.1:c.1828C>A
  • NM_000251.2:c.1828C>A
  • P43246:p.His610Asn
Protein change:
H544N
Links:
UniProtKB: P43246#VAR_054516; dbSNP: rs267607980
NCBI 1000 Genomes Browser:
rs267607980
Molecular consequence:
  • NM_000251.3:c.1828C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258281.1:c.1630C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000532783GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Oct 3, 2018) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000532783.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The H610N variant in the MSH2 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. An ex vivo minigene assay performed by Tournier et al. (2008) did not show any effect of MSH2 His610Asn on splicing, ruling out aberrant splicing as the possible mechanism of pathogenicity. The H610N variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations. This variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. The H610N variant occurs at a position that is not conserved and is located in the lever domain and a region of interaction with MSH3/6 and EXO1 (Lützen et al., 2008). In silico analyses predict that this variant is probably damaging to protein structure and function. Based on currently available evidence, we consider H610N to be a variant of uncertain significance.

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

Last Updated: Sep 29, 2024