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.2291del (p.Thr764fs)
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.2291del (p.Thr764fs)
Variation ID: 2673745 Accession: VCV002673745.1
- Type and length
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Deletion, 1 bp
- Location
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Cytogenetic: 2p16.3 2: 47800274 (GRCh38) [ NCBI UCSC ] 2: 48027413 (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 Dec 25, 2023 Dec 24, 2023 Aug 16, 2023 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_000179.3:c.2291del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000170.1:p.Thr764fs frameshift NM_001281492.2:c.1901del NP_001268421.1:p.Thr634fs frameshift NM_001281493.2:c.1385del NP_001268422.1:p.Thr462fs frameshift NM_001281494.2:c.1385del NP_001268423.1:p.Thr462fs frameshift NM_001406795.1:c.2387del NP_001393724.1:p.Thr796fs frameshift NM_001406796.1:c.2291del NP_001393725.1:p.Thr764fs frameshift NM_001406797.1:c.1994del NP_001393726.1:p.Thr665fs frameshift NM_001406798.1:c.2291del NP_001393727.1:p.Thr764fs frameshift NM_001406799.1:c.1766del NP_001393728.1:p.Thr589fs frameshift NM_001406800.1:c.2291del NP_001393729.1:p.Thr764fs frameshift NM_001406801.1:c.1994del NP_001393730.1:p.Thr665fs frameshift NM_001406802.1:c.2387del NP_001393731.1:p.Thr796fs frameshift NM_001406803.1:c.2291del NP_001393732.1:p.Thr764fs frameshift NM_001406804.1:c.2213del NP_001393733.1:p.Thr738fs frameshift NM_001406805.1:c.1994del NP_001393734.1:p.Thr665fs frameshift NM_001406806.1:c.1766del NP_001393735.1:p.Thr589fs frameshift NM_001406807.1:c.1766del NP_001393736.1:p.Thr589fs frameshift NM_001406808.1:c.2291del NP_001393737.1:p.Thr764fs frameshift NM_001406809.1:c.2291del NP_001393738.1:p.Thr764fs frameshift NM_001406811.1:c.1385del NP_001393740.1:p.Thr462fs frameshift NM_001406812.1:c.1385del NP_001393741.1:p.Thr462fs frameshift NM_001406813.1:c.2297del NP_001393742.1:p.Thr766fs frameshift NM_001406814.1:c.1385del NP_001393743.1:p.Thr462fs frameshift NM_001406815.1:c.1385del NP_001393744.1:p.Thr462fs frameshift NM_001406816.1:c.1385del NP_001393745.1:p.Thr462fs frameshift NM_001406817.1:c.1606+685del intron variant NM_001406818.1:c.1994del NP_001393747.1:p.Thr665fs frameshift NM_001406819.1:c.1994del NP_001393748.1:p.Thr665fs frameshift NM_001406820.1:c.1994del NP_001393749.1:p.Thr665fs frameshift NM_001406821.1:c.1994del NP_001393750.1:p.Thr665fs frameshift NM_001406822.1:c.1994del NP_001393751.1:p.Thr665fs frameshift NM_001406823.1:c.1385del NP_001393752.1:p.Thr462fs frameshift NM_001406824.1:c.1994del NP_001393753.1:p.Thr665fs frameshift NM_001406825.1:c.1994del NP_001393754.1:p.Thr665fs frameshift NM_001406826.1:c.2123del NP_001393755.1:p.Thr708fs frameshift NM_001406827.1:c.1994del NP_001393756.1:p.Thr665fs frameshift NM_001406828.1:c.1994del NP_001393757.1:p.Thr665fs frameshift NM_001406829.1:c.1385del NP_001393758.1:p.Thr462fs frameshift NM_001406830.1:c.1994del NP_001393759.1:p.Thr665fs frameshift NM_001407362.1:c.628-392del intron variant NR_176256.1:n.1153del non-coding transcript variant NR_176257.1:n.2380del non-coding transcript variant NR_176258.1:n.2380del non-coding transcript variant NR_176259.1:n.2380del non-coding transcript variant NR_176261.1:n.2380del non-coding transcript variant NC_000002.12:g.47800274del NC_000002.11:g.48027413del NG_007111.1:g.22128del LRG_219:g.22128del LRG_219t1:c.2291del LRG_219p1:p.Thr764Ilefs - Protein change
- T462fs, T589fs, T634fs, T665fs, T708fs, T738fs, T764fs, T766fs, T796fs
- Other names
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- Canonical SPDI
- NC_000002.12:47800273:C:
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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 |
9159 | 9475 | |
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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Aug 16, 2023 | RCV003450382.1 |
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
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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
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
(Aug 16, 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: SCV004187291.1
First in ClinVar: Dec 24, 2023 Last updated: Dec 24, 2023 |
Comment:
This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
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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.