This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
ClinVar Genomic variation as it relates to human health
NM_000179.3(MSH6):c.1940dup (p.Ser648fs)
Germline
Classification
Help
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.
(1)
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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.
Pathogenic
1
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_000179.3(MSH6):c.1940dup (p.Ser648fs)
Variation ID: 2573241 Accession: VCV002573241.1
- Type and length
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Duplication, 1 bp
- Location
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Cytogenetic: 2p16.3 2: 47799922-47799923 (GRCh38) [ NCBI UCSC ] 2: 48027061-48027062 (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 Jul 29, 2023 Jul 29, 2023 Mar 21, 2023 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_000179.3:c.1940dup MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000170.1:p.Ser648fs frameshift NM_001281492.2:c.1550dup NP_001268421.1:p.Ser518fs frameshift NM_001281493.2:c.1034dup NP_001268422.1:p.Ser346fs frameshift NM_001281494.2:c.1034dup NP_001268423.1:p.Ser346fs frameshift NM_001406795.1:c.2036dup NP_001393724.1:p.Ser680fs frameshift NM_001406796.1:c.1940dup NP_001393725.1:p.Ser648fs frameshift NM_001406797.1:c.1643dup NP_001393726.1:p.Ser549fs frameshift NM_001406798.1:c.1940dup NP_001393727.1:p.Ser648fs frameshift NM_001406799.1:c.1415dup NP_001393728.1:p.Ser473fs frameshift NM_001406800.1:c.1940dup NP_001393729.1:p.Ser648fs frameshift NM_001406801.1:c.1643dup NP_001393730.1:p.Ser549fs frameshift NM_001406802.1:c.2036dup NP_001393731.1:p.Ser680fs frameshift NM_001406803.1:c.1940dup NP_001393732.1:p.Ser648fs frameshift NM_001406804.1:c.1862dup NP_001393733.1:p.Ser622fs frameshift NM_001406805.1:c.1643dup NP_001393734.1:p.Ser549fs frameshift NM_001406806.1:c.1415dup NP_001393735.1:p.Ser473fs frameshift NM_001406807.1:c.1415dup NP_001393736.1:p.Ser473fs frameshift NM_001406808.1:c.1940dup NP_001393737.1:p.Ser648fs frameshift NM_001406809.1:c.1940dup NP_001393738.1:p.Ser648fs frameshift NM_001406811.1:c.1034dup NP_001393740.1:p.Ser346fs frameshift NM_001406812.1:c.1034dup NP_001393741.1:p.Ser346fs frameshift NM_001406813.1:c.1946dup NP_001393742.1:p.Ser650fs frameshift NM_001406814.1:c.1034dup NP_001393743.1:p.Ser346fs frameshift NM_001406815.1:c.1034dup NP_001393744.1:p.Ser346fs frameshift NM_001406816.1:c.1034dup NP_001393745.1:p.Ser346fs frameshift NM_001406817.1:c.1606+334dup intron variant NM_001406818.1:c.1643dup NP_001393747.1:p.Ser549fs frameshift NM_001406819.1:c.1643dup NP_001393748.1:p.Ser549fs frameshift NM_001406820.1:c.1643dup NP_001393749.1:p.Ser549fs frameshift NM_001406821.1:c.1643dup NP_001393750.1:p.Ser549fs frameshift NM_001406822.1:c.1643dup NP_001393751.1:p.Ser549fs frameshift NM_001406823.1:c.1034dup NP_001393752.1:p.Ser346fs frameshift NM_001406824.1:c.1643dup NP_001393753.1:p.Ser549fs frameshift NM_001406825.1:c.1643dup NP_001393754.1:p.Ser549fs frameshift NM_001406826.1:c.1772dup NP_001393755.1:p.Ser592fs frameshift NM_001406827.1:c.1643dup NP_001393756.1:p.Ser549fs frameshift NM_001406828.1:c.1643dup NP_001393757.1:p.Ser549fs frameshift NM_001406829.1:c.1034dup NP_001393758.1:p.Ser346fs frameshift NM_001406830.1:c.1643dup NP_001393759.1:p.Ser549fs frameshift NM_001407362.1:c.628-743dup intron variant NR_176256.1:n.802dup non-coding transcript variant NR_176257.1:n.2029dup non-coding transcript variant NR_176258.1:n.2029dup non-coding transcript variant NR_176259.1:n.2029dup non-coding transcript variant NR_176261.1:n.2029dup non-coding transcript variant NC_000002.12:g.47799923dup NC_000002.11:g.48027062dup NG_007111.1:g.21777dup LRG_219:g.21777dup LRG_219t1:c.1940dup LRG_219p1:p.Ser648Lysfs - Protein change
- S346fs, S473fs, S518fs, S549fs, S592fs, S622fs, S648fs, S650fs, S680fs
- Other names
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- Canonical SPDI
- NC_000002.12:47799922:T:TT
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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
Help
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 | ||
|---|---|---|---|---|---|---|
| HI score
Help
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
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
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 |
9161 | 9479 | |
Conditions - Germline
| Condition
Help
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
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
|---|---|---|---|---|
| Pathogenic (1) |
criteria provided, single submitter
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Mar 21, 2023 | RCV003316930.1 |
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
Help
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
(Mar 21, 2023)
|
criteria provided, single submitter
Method: clinical testing
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Lynch syndrome 5
Affected status: unknown
Allele origin:
unknown
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Myriad Genetics, Inc.
Accession: SCV004018357.1
First in ClinVar: Jul 29, 2023 Last updated: Jul 29, 2023 |
Comment:
This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
|
Comment:
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. |
Comment:
This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
Citations for germline classification of this variant
Help| There 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 Oct 08, 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.