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NM_000179.2(MSH6):c.257C>T (p.Thr86Ile)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Aug 17, 2021)
Last evaluated:
Oct 14, 2020
Accession:
VCV000480918.8
Variation ID:
480918
Description:
single nucleotide variant
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NM_000179.2(MSH6):c.257C>T (p.Thr86Ile)

Allele ID
472927
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2p16.3
Genomic location
2: 47783490 (GRCh38) GRCh38 UCSC
2: 48010629 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.48010629C>T
NC_000002.12:g.47783490C>T
NM_000179.2:c.257C>T NP_000170.1:p.Thr86Ile missense
... more HGVS
Protein change
T86I
Other names
-
Canonical SPDI
NC_000002.12:47783489:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA46688635
dbSNP: rs768444916
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Oct 14, 2020 RCV000629809.4
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Apr 17, 2020 RCV000572033.4
Uncertain significance 1 no assertion criteria provided Sep 17, 2020 RCV001566523.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MSH6 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
5623 5657

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Jan 12, 2016)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color Health, Inc
Accession: SCV000903779.1
Submitted: (Nov 06, 2018)
Evidence details
Uncertain significance
(Apr 17, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000664870.3
Submitted: (Nov 30, 2020)
Evidence details
Publications
PubMed (1)
Comment:
The p.T86I variant (also known as c.257C>T), located in coding exon 1 of the MSH6 gene, results from a C to T substitution at nucleotide … (more)
Uncertain significance
(Oct 14, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary nonpolyposis colorectal neoplasms
Allele origin: germline
Invitae
Accession: SCV000750765.4
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces threonine with isoleucine at codon 86 of the MSH6 protein (p.Thr86Ile). The threonine residue is weakly conserved and there is a … (more)
Uncertain significance
(Sep 17, 2020)
no assertion criteria provided
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001790057.1
Submitted: (Aug 17, 2021)
Evidence details
Comment:
Not observed in large population cohorts (Lek 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Observed in individuals with … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer. Pearlman R JAMA oncology 2017 PMID: 27978560

Text-mined citations for rs768444916...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Aug 19, 2021