NM_000179.2(MSH6):c.2175C>G (p.Ile725Met)

Variation ID: Help
89257
Review status: Help
reviewed by expert panel3 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Uncertain significance
Last evaluated:
Sep 5, 2013
Number of submission(s):
2
Condition(s):
See supporting ClinVar records

Allele(s) Help

NM_000179.2(MSH6):c.2175C>G (p.Ile725Met)

Allele ID:
94731
Variant type:
single nucleotide variant
Cytogenetic location:
2p16.3
Genomic location:
  • Chr2: 47800158 (on Assembly GRCh38)
  • Chr2: 48027297 (on Assembly GRCh37)
Protein change:
I725M
HGVS:
  • NG_007111.1:g.22012C>G
  • NM_000179.2:c.2175C>G
  • NP_000170.1:p.Ile725Met
  • NC_000002.12:g.47800158C>G (GRCh38)
  • LRG_219t1:c.2175C>G
  • NC_000002.11:g.48027297C>G (GRCh37)
  • P52701:p.Ile725Met
  • LRG_219p1:p.Ile725Met
  • LRG_219:g.22012C>G
Links:
NCBI 1000 Genomes Browser:
rs63750304
Molecular consequence:
NM_000179.2:c.2175C>G: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
ExAC 0.00003 (G)

Variant frequency in dbGaP Help

NM_000179.2(MSH6):c.2175C>G (p.Ile725Met)

GRCh37 Chr2:48027297
Called variantsPotential variants
Sample countno data1 of 40932

Called variants are samples submitted to dbGaP that have the variant allele. Potential variants are SRA runs that display the allele in at least 30% of the reads covering the position, and have 10 or more passing reads covering the position.

Browser views

Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Uncertain significance
(Sep 5, 2013)
reviewed by expert panel
researchgermlineInSiGHTSCV000107929.2
Uncertain significance
(Jun 29, 2016)
criteria provided, single submitter
clinical testing
  • Hereditary nonpolyposis colorectal cancer type 5[MedGen | OMIM]
unknownCounsylSCV000488837.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
Total for all submittersnot providednot providedgermline, unknownnot providednot provided
Counsylnot providednot providedunknownnot providednot providednot provided
InSiGHTnot providednot providedgermlinenot providednot providedInsufficient evidence…Full description
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Jan 6, 2017