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NM_000179.2(MSH6):c.3384T>C (p.Tyr1128=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 19, 2020
Accession:
VCV000380747.6
Variation ID:
380747
Description:
single nucleotide variant
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NM_000179.2(MSH6):c.3384T>C (p.Tyr1128=)

Allele ID
366851
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2p16.3
Genomic location
2: 47803631 (GRCh38) GRCh38 UCSC
2: 48030770 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.48030770T>C
NC_000002.12:g.47803631T>C
NM_001281494.1:c.2478T>C NP_001268423.1:p.Tyr826= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000002.12:47803630:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (C)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00019
The Genome Aggregation Database (gnomAD), exomes 0.00020
1000 Genomes Project 0.00020
Links
ClinGen: CA070750
dbSNP: rs544518097
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 2 criteria provided, multiple submitters, no conflicts Dec 16, 2016 RCV000572086.2
Likely benign 1 criteria provided, single submitter Sep 1, 2017 RCV000438102.2
Benign 2 criteria provided, single submitter Jan 5, 2018 RCV000656574.3
Benign 1 criteria provided, single submitter Oct 19, 2020 RCV001080984.2
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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
5633 5667

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Dec 16, 2016)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color Health, Inc
Accession: SCV000685395.1
Submitted: (Oct 26, 2017)
Evidence details
Likely benign
(Sep 01, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000519144.4
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Benign
(Jan 05, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV000888272.1
Submitted: (Aug 31, 2018)
Evidence details
Likely benign
(Feb 14, 2016)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000662441.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
Synonymous alterations with insufficient evidence to classify as benign
Benign
(Oct 19, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary nonpolyposis colorectal neoplasms
Allele origin: germline
Invitae
Accession: SCV000561529.6
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Oct 26, 2017)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: unknown
Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV000778623.1
Submitted: (Mar 09, 2018)
Evidence details

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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs544518097...

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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 Jun 14, 2021