ClinVar Genomic variation as it relates to human health
NM_000179.3(MSH6):c.2081del (p.Cys694fs)
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.2081del (p.Cys694fs)
Variation ID: 1785571 Accession: VCV001785571.2
- Type and length
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Deletion, 1 bp
- Location
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Cytogenetic: 2p16.3 2: 47800064 (GRCh38) [ NCBI UCSC ] 2: 48027203 (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 Dec 9, 2021 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000179.3:c.2081del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000170.1:p.Cys694fs frameshift NM_001281492.2:c.1691del NP_001268421.1:p.Cys564fs frameshift NM_001281493.2:c.1175del NP_001268422.1:p.Cys392fs frameshift NM_001281494.2:c.1175del NP_001268423.1:p.Cys392fs frameshift NM_001406795.1:c.2177delG NP_001393724.1:p.Cys726Serfs frameshift NM_001406796.1:c.2081delG NP_001393725.1:p.Cys694Serfs frameshift NM_001406797.1:c.1784delG NP_001393726.1:p.Cys595Serfs frameshift NM_001406798.1:c.2081delG NP_001393727.1:p.Cys694Serfs frameshift NM_001406799.1:c.1556delG NP_001393728.1:p.Cys519Serfs frameshift NM_001406800.1:c.2081delG NP_001393729.1:p.Cys694Serfs frameshift NM_001406801.1:c.1784delG NP_001393730.1:p.Cys595Serfs frameshift NM_001406802.1:c.2177delG NP_001393731.1:p.Cys726Serfs frameshift NM_001406803.1:c.2081delG NP_001393732.1:p.Cys694Serfs frameshift NM_001406804.1:c.2003delG NP_001393733.1:p.Cys668Serfs frameshift NM_001406805.1:c.1784delG NP_001393734.1:p.Cys595Serfs frameshift NM_001406806.1:c.1556delG NP_001393735.1:p.Cys519Serfs frameshift NM_001406807.1:c.1556delG NP_001393736.1:p.Cys519Serfs frameshift NM_001406808.1:c.2081delG NP_001393737.1:p.Cys694Serfs frameshift NM_001406809.1:c.2081delG NP_001393738.1:p.Cys694Serfs frameshift NM_001406811.1:c.1175delG NP_001393740.1:p.Cys392Serfs frameshift NM_001406812.1:c.1175delG NP_001393741.1:p.Cys392Serfs frameshift NM_001406813.1:c.2087delG NP_001393742.1:p.Cys696Serfs frameshift NM_001406814.1:c.1175delG NP_001393743.1:p.Cys392Serfs frameshift NM_001406815.1:c.1175delG NP_001393744.1:p.Cys392Serfs frameshift NM_001406816.1:c.1175delG NP_001393745.1:p.Cys392Serfs frameshift NM_001406818.1:c.1784delG NP_001393747.1:p.Cys595Serfs frameshift NM_001406819.1:c.1784delG NP_001393748.1:p.Cys595Serfs frameshift NM_001406820.1:c.1784delG NP_001393749.1:p.Cys595Serfs frameshift NM_001406821.1:c.1784delG NP_001393750.1:p.Cys595Serfs frameshift NM_001406822.1:c.1784delG NP_001393751.1:p.Cys595Serfs frameshift NM_001406823.1:c.1175delG NP_001393752.1:p.Cys392Serfs frameshift NM_001406824.1:c.1784delG NP_001393753.1:p.Cys595Serfs frameshift NM_001406825.1:c.1784delG NP_001393754.1:p.Cys595Serfs frameshift NM_001406826.1:c.1913delG NP_001393755.1:p.Cys638Serfs frameshift NM_001406827.1:c.1784delG NP_001393756.1:p.Cys595Serfs frameshift NM_001406828.1:c.1784delG NP_001393757.1:p.Cys595Serfs frameshift NM_001406829.1:c.1175delG NP_001393758.1:p.Cys392Serfs frameshift NM_001406830.1:c.1784delG NP_001393759.1:p.Cys595Serfs frameshift NR_176256.1:n.943delG NR_176257.1:n.2170delG NR_176258.1:n.2170delG NR_176259.1:n.2170delG NR_176261.1:n.2170delG NC_000002.12:g.47800064del NC_000002.11:g.48027203del NG_007111.1:g.21918del LRG_219:g.21918del LRG_219t1:c.2081del LRG_219p1:p.Cys694Serfs - Protein change
- C694fs, C392fs, C564fs
- Other names
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- Canonical SPDI
- NC_000002.12:47800063:G:
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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 |
9148 | 9458 |
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
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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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Dec 9, 2021 | RCV002423883.2 |
Submissions - Germline
Classification
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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
(Dec 09, 2021)
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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: SCV002729867.2
First in ClinVar: Nov 29, 2022 Last updated: May 01, 2024 |
Comment:
The c.2081delG pathogenic mutation, located in coding exon 4 of the MSH6 gene, results from a deletion of one nucleotide at nucleotide position 2081, causing … (more)
The c.2081delG pathogenic mutation, located in coding exon 4 of the MSH6 gene, results from a deletion of one nucleotide at nucleotide position 2081, causing a translational frameshift with a predicted alternate stop codon (p.C694Sfs*42). 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.