ClinVar Genomic variation as it relates to human health
NM_000179.3(MSH6):c.3513_3514dup (p.Arg1172fs)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_000179.3(MSH6):c.3513_3514dup (p.Arg1172fs)
Variation ID: 1732178 Accession: VCV001732178.2
- Type and length
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Duplication, 2 bp
- Location
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Cytogenetic: 2p16.3 2: 47804982-47804983 (GRCh38) [ NCBI UCSC ] 2: 48032121-48032122 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Nov 29, 2022 May 1, 2024 Feb 24, 2020 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000179.3:c.3513_3514dup MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000170.1:p.Arg1172fs frameshift NM_000179.2:c.3513_3514dupTA frameshift NM_001281492.2:c.3123_3124dup NP_001268421.1:p.Arg1042fs frameshift NM_001281493.2:c.2607_2608dup NP_001268422.1:p.Arg870fs frameshift NM_001281494.2:c.2607_2608dup NP_001268423.1:p.Arg870fs frameshift NM_001406795.1:c.3609_3610dup NP_001393724.1:p.Arg1204Ilefs frameshift NM_001406796.1:c.3513_3514dup NP_001393725.1:p.Arg1172Ilefs frameshift NM_001406797.1:c.3216_3217dup NP_001393726.1:p.Arg1073Ilefs frameshift NM_001406798.1:c.3339_3340dup NP_001393727.1:p.Arg1114Ilefs frameshift NM_001406799.1:c.2988_2989dup NP_001393728.1:p.Arg997Ilefs frameshift NM_001406800.1:c.3513_3514dup NP_001393729.1:p.Arg1172Ilefs frameshift NM_001406801.1:c.3216_3217dup NP_001393730.1:p.Arg1073Ilefs frameshift NM_001406802.1:c.3609_3610dup NP_001393731.1:p.Arg1204Ilefs frameshift NM_001406803.1:c.2649_2650dup NP_001393732.1:p.Arg884Ilefs frameshift NM_001406804.1:c.3435_3436dup NP_001393733.1:p.Arg1146Ilefs frameshift NM_001406805.1:c.3216_3217dup NP_001393734.1:p.Arg1073Ilefs frameshift NM_001406806.1:c.2988_2989dup NP_001393735.1:p.Arg997Ilefs frameshift NM_001406807.1:c.2988_2989dup NP_001393736.1:p.Arg997Ilefs frameshift NM_001406808.1:c.3513_3514dup NP_001393737.1:p.Arg1172Ilefs frameshift NM_001406809.1:c.3513_3514dup NP_001393738.1:p.Arg1172Ilefs frameshift NM_001406811.1:c.2607_2608dup NP_001393740.1:p.Arg870Ilefs frameshift NM_001406812.1:c.2607_2608dup NP_001393741.1:p.Arg870Ilefs frameshift NM_001406813.1:c.3519_3520dup NP_001393742.1:p.Arg1174Ilefs frameshift NM_001406814.1:c.2607_2608dup NP_001393743.1:p.Arg870Ilefs frameshift NM_001406815.1:c.2607_2608dup NP_001393744.1:p.Arg870Ilefs frameshift NM_001406816.1:c.2607_2608dup NP_001393745.1:p.Arg870Ilefs frameshift NM_001406817.1:c.1947_1948dup NP_001393746.1:p.Arg650Ilefs frameshift NM_001406818.1:c.3216_3217dup NP_001393747.1:p.Arg1073Ilefs frameshift NM_001406819.1:c.3216_3217dup NP_001393748.1:p.Arg1073Ilefs frameshift NM_001406820.1:c.3216_3217dup NP_001393749.1:p.Arg1073Ilefs frameshift NM_001406821.1:c.3216_3217dup NP_001393750.1:p.Arg1073Ilefs frameshift NM_001406822.1:c.3216_3217dup NP_001393751.1:p.Arg1073Ilefs frameshift NM_001406823.1:c.2607_2608dup NP_001393752.1:p.Arg870Ilefs frameshift NM_001406824.1:c.3216_3217dup NP_001393753.1:p.Arg1073Ilefs frameshift NM_001406825.1:c.3216_3217dup NP_001393754.1:p.Arg1073Ilefs frameshift NM_001406826.1:c.3345_3346dup NP_001393755.1:p.Arg1116Ilefs frameshift NM_001406827.1:c.3216_3217dup NP_001393756.1:p.Arg1073Ilefs frameshift NM_001406828.1:c.3216_3217dup NP_001393757.1:p.Arg1073Ilefs frameshift NM_001406829.1:c.2607_2608dup NP_001393758.1:p.Arg870Ilefs frameshift NM_001406830.1:c.3216_3217dup NP_001393759.1:p.Arg1073Ilefs frameshift NM_001406831.1:c.294_295dup NP_001393760.1:p.Arg99Ilefs frameshift NM_001406832.1:c.360_361dup NP_001393761.1:p.Arg121Ilefs frameshift NM_001407362.1:c.1458_1459dup NP_001394291.1:p.Arg487Ilefs frameshift NR_176256.1:n.2443_2444dup NR_176257.1:n.3774_3775dup NR_176258.1:n.3703_3704dup NR_176259.1:n.3602_3603dup NR_176260.1:n.1547_1548dup NC_000002.12:g.47804984_47804985dup NC_000002.11:g.48032123_48032124dup NG_007111.1:g.26838_26839dup NG_008397.1:g.105692_105693dup LRG_219:g.26838_26839dup LRG_219t1:c.3513_3514dup LRG_219p1:p.Arg1172Ilefs - Protein change
- R870fs, R1042fs, R1172fs
- Other names
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- Canonical SPDI
- NC_000002.12:47804982:ATA:ATATA
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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Allele frequency
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The frequency of the allele represented by this VCV record.
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- Links
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
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Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
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The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
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The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
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The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
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The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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MSH6 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
9157 | 9471 |
Conditions - Germline
Condition
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The condition for this variant-condition (RCV) record in ClinVar. |
Classification
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The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
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The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
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The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Pathogenic (1) |
criteria provided, single submitter
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Feb 24, 2020 | RCV002459234.2 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
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The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
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The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
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This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Pathogenic
(Feb 24, 2020)
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criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV002616374.2
First in ClinVar: Nov 29, 2022 Last updated: May 01, 2024 |
Comment:
The c.3513_3514dupTA pathogenic mutation, located in coding exon 6 of the MSH6 gene, results from a duplication of TA at nucleotide position 3513, causing a … (more)
The c.3513_3514dupTA pathogenic mutation, located in coding exon 6 of the MSH6 gene, results from a duplication of TA at nucleotide position 3513, causing a translational frameshift with a predicted alternate stop codon (p.R1172Ifs*13). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. (less)
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Germline Functional Evidence
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 germline classification of this variant
HelpThere are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar. |
Text-mined citations for this variant ...
HelpRecord last updated May 01, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.