ClinVar Genomic variation as it relates to human health
NM_000179.3(MSH6):c.315del (p.Trp105fs)
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.315del (p.Trp105fs)
Variation ID: 1728282 Accession: VCV001728282.1
- Type and length
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Deletion, 1 bp
- Location
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Cytogenetic: 2p16.3 2: 47790980 (GRCh38) [ NCBI UCSC ] 2: 48018119 (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 Nov 29, 2022 May 8, 2020 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000179.3:c.315del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000170.1:p.Trp105fs frameshift NM_001281492.2:c.237+7511del intron variant NM_001281493.2:c.-422del 5 prime UTR NM_001281494.2:c.-588del 5 prime UTR NM_001406795.1:c.411delG NP_001393724.1:p.Trp137Cysfs frameshift NM_001406796.1:c.315delG NP_001393725.1:p.Trp105Cysfs frameshift NM_001406797.1:c.18delG NP_001393726.1:p.Trp6Cysfs frameshift NM_001406798.1:c.315delG NP_001393727.1:p.Trp105Cysfs frameshift NM_001406800.1:c.315delG NP_001393729.1:p.Trp105Cysfs frameshift NM_001406801.1:c.18delG NP_001393730.1:p.Trp6Cysfs frameshift NM_001406802.1:c.411delG NP_001393731.1:p.Trp137Cysfs frameshift NM_001406803.1:c.315delG NP_001393732.1:p.Trp105Cysfs frameshift NM_001406804.1:c.237delG NP_001393733.1:p.Trp79Cysfs frameshift NM_001406805.1:c.18delG NP_001393734.1:p.Trp6Cysfs frameshift NM_001406807.1:c.-614delG NM_001406808.1:c.315delG NP_001393737.1:p.Trp105Cysfs frameshift NM_001406809.1:c.315delG NP_001393738.1:p.Trp105Cysfs frameshift NM_001406811.1:c.-422delG NM_001406813.1:c.315delG NP_001393742.1:p.Trp105Cysfs frameshift NM_001406814.1:c.-680delG NM_001406817.1:c.315delG NP_001393746.1:p.Trp105Cysfs frameshift NM_001406818.1:c.18delG NP_001393747.1:p.Trp6Cysfs frameshift NM_001406819.1:c.18delG NP_001393748.1:p.Trp6Cysfs frameshift NM_001406820.1:c.18delG NP_001393749.1:p.Trp6Cysfs frameshift NM_001406821.1:c.18delG NP_001393750.1:p.Trp6Cysfs frameshift NM_001406822.1:c.18delG NP_001393751.1:p.Trp6Cysfs frameshift NM_001406823.1:c.-422delG NM_001406824.1:c.18delG NP_001393753.1:p.Trp6Cysfs frameshift NM_001406825.1:c.18delG NP_001393754.1:p.Trp6Cysfs frameshift NM_001406826.1:c.147delG NP_001393755.1:p.Trp49Cysfs frameshift NM_001406827.1:c.18delG NP_001393756.1:p.Trp6Cysfs frameshift NM_001406828.1:c.18delG NP_001393757.1:p.Trp6Cysfs frameshift NM_001406829.1:c.-422delG NM_001406830.1:c.18delG NP_001393759.1:p.Trp6Cysfs frameshift NM_001407362.1:c.315delG NP_001394291.1:p.Trp105Cysfs frameshift NR_176256.1:n.404delG NR_176257.1:n.404delG NR_176258.1:n.404delG NR_176259.1:n.404delG NR_176260.1:n.404delG NR_176261.1:n.404delG NC_000002.12:g.47790981del NC_000002.11:g.48018120del NG_007111.1:g.12835del LRG_219:g.12835del LRG_219t1:c.315del LRG_219p1:p.Trp105Cysfs - Protein change
- W105fs
- Other names
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- Canonical SPDI
- NC_000002.12:47790979:GG: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
Help
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
Help
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 |
8944 | 9250 |
Conditions - Germline
Condition
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The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
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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May 8, 2020 | RCV002320914.1 |
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
Help
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
Help
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
(May 08, 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: SCV002608048.1
First in ClinVar: Nov 29, 2022 Last updated: Nov 29, 2022 |
Comment:
The c.315delG pathogenic mutation, located in coding exon 2 of the MSH6 gene, results from a deletion of one nucleotide at nucleotide position 315, causing … (more)
The c.315delG pathogenic mutation, located in coding exon 2 of the MSH6 gene, results from a deletion of one nucleotide at nucleotide position 315, causing a translational frameshift with a predicted alternate stop codon (p.W105Cfs*44). 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)
Number of individuals with the variant: 1
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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 Dec 25, 2023
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.