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NM_000179.3(MSH6):c.3996_3999dup (p.Arg1334fs)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Jan 15, 2020
Accession:
VCV000525790.6
Variation ID:
525790
Description:
4bp duplication
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NM_000179.3(MSH6):c.3996_3999dup (p.Arg1334fs)

Allele ID
518578
Variant type
Duplication
Variant length
4 bp
Cytogenetic location
2p16.3
Genomic location
2: 47806643-47806644 (GRCh38) GRCh38 UCSC
2: 48033782-48033783 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.48033785_48033788dup
NC_000002.12:g.47806646_47806649dup
NG_007111.1:g.28500_28503dup
... more HGVS
Protein change
R1032fs, R1204fs, R1334fs
Other names
-
Canonical SPDI
NC_000002.12:47806643:TTATTT:TTATTTATTT
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA658795761
dbSNP: rs1553333753
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Jun 18, 2019 RCV000630092.3
Likely pathogenic 1 criteria provided, single submitter Jul 2, 2018 RCV000708896.1
Likely pathogenic 1 criteria provided, single submitter Jan 15, 2020 RCV000771471.2
Likely pathogenic 1 criteria provided, single submitter May 28, 2019 RCV000986745.1
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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
5681 5715

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Jul 02, 2018)
criteria provided, single submitter
Method: clinical testing
Lynch syndrome
Allele origin: unknown
Mendelics
Accession: SCV000837928.1
Submitted: (Aug 20, 2018)
Evidence details
Likely pathogenic
(May 28, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary nonpolyposis colorectal cancer type 5
Allele origin: unknown
Mendelics
Accession: SCV001135857.1
Submitted: (Oct 22, 2019)
Evidence details
Likely pathogenic
(Jan 15, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color Health, Inc
Accession: SCV000903915.2
Submitted: (May 19, 2020)
Comment:
This variant inserts 4 nucleotides in exon 9 of the MSH6 gene, creating a frameshift and premature translation stop signal. This variant is expected to … (more)
Evidence details
Likely pathogenic
(Jun 18, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary nonpolyposis colorectal neoplasms
Allele origin: germline
Invitae
Accession: SCV000751048.3
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change results in a premature translational stop signal in the MSH6 gene (p.Arg1334Ilefs*8). While this is not anticipated to result in nonsense mediated … (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
Characterization of two Ashkenazi Jewish founder mutations in MSH6 gene causing Lynch syndrome. Raskin L Clinical genetics 2011 PMID: 21155762
An Ashkenazi founder mutation in the MSH6 gene leading to HNPCC. Goldberg Y Familial cancer 2010 PMID: 19851887

Text-mined citations for rs1553333753...

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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 Dec 04, 2021