ClinVar Genomic variation as it relates to human health
NM_000179.3(MSH6):c.964_967del (p.Ala322fs)
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.964_967del (p.Ala322fs)
Variation ID: 2430174 Accession: VCV002430174.1
- Type and length
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Deletion, 4 bp
- Location
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Cytogenetic: 2p16.3 2: 47798945-47798948 (GRCh38) [ NCBI UCSC ] 2: 48026084-48026087 (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 Feb 25, 2023 Feb 25, 2023 Feb 21, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000179.3:c.964_967del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000170.1:p.Ala322fs frameshift NM_001281492.2:c.574_577del NP_001268421.1:p.Ala192fs frameshift NM_001281493.2:c.58_61del NP_001268422.1:p.Ala20fs frameshift NM_001281494.2:c.58_61del NP_001268423.1:p.Ala20fs frameshift NM_001406795.1:c.1060_1063delGCCA NP_001393724.1:p.Ala354Profs frameshift NM_001406796.1:c.964_967delGCCA NP_001393725.1:p.Ala322Profs frameshift NM_001406797.1:c.667_670delGCCA NP_001393726.1:p.Ala223Profs frameshift NM_001406798.1:c.964_967delGCCA NP_001393727.1:p.Ala322Profs frameshift NM_001406799.1:c.439_442delGCCA NP_001393728.1:p.Ala147Profs frameshift NM_001406800.1:c.964_967delGCCA NP_001393729.1:p.Ala322Profs frameshift NM_001406801.1:c.667_670delGCCA NP_001393730.1:p.Ala223Profs frameshift NM_001406802.1:c.1060_1063delGCCA NP_001393731.1:p.Ala354Profs frameshift NM_001406803.1:c.964_967delGCCA NP_001393732.1:p.Ala322Profs frameshift NM_001406804.1:c.886_889delGCCA NP_001393733.1:p.Ala296Profs frameshift NM_001406805.1:c.667_670delGCCA NP_001393734.1:p.Ala223Profs frameshift NM_001406806.1:c.439_442delGCCA NP_001393735.1:p.Ala147Profs frameshift NM_001406807.1:c.439_442delGCCA NP_001393736.1:p.Ala147Profs frameshift NM_001406808.1:c.964_967delGCCA NP_001393737.1:p.Ala322Profs frameshift NM_001406809.1:c.964_967delGCCA NP_001393738.1:p.Ala322Profs frameshift NM_001406811.1:c.58_61delGCCA NP_001393740.1:p.Ala20Profs frameshift NM_001406812.1:c.58_61delGCCA NP_001393741.1:p.Ala20Profs frameshift NM_001406813.1:c.970_973delGCCA NP_001393742.1:p.Ala324Profs frameshift NM_001406814.1:c.58_61delGCCA NP_001393743.1:p.Ala20Profs frameshift NM_001406815.1:c.58_61delGCCA NP_001393744.1:p.Ala20Profs frameshift NM_001406816.1:c.58_61delGCCA NP_001393745.1:p.Ala20Profs frameshift NM_001406817.1:c.964_967delGCCA NP_001393746.1:p.Ala322Profs frameshift NM_001406818.1:c.667_670delGCCA NP_001393747.1:p.Ala223Profs frameshift NM_001406819.1:c.667_670delGCCA NP_001393748.1:p.Ala223Profs frameshift NM_001406820.1:c.667_670delGCCA NP_001393749.1:p.Ala223Profs frameshift NM_001406821.1:c.667_670delGCCA NP_001393750.1:p.Ala223Profs frameshift NM_001406822.1:c.667_670delGCCA NP_001393751.1:p.Ala223Profs frameshift NM_001406823.1:c.58_61delGCCA NP_001393752.1:p.Ala20Profs frameshift NM_001406824.1:c.667_670delGCCA NP_001393753.1:p.Ala223Profs frameshift NM_001406825.1:c.667_670delGCCA NP_001393754.1:p.Ala223Profs frameshift NM_001406826.1:c.796_799delGCCA NP_001393755.1:p.Ala266Profs frameshift NM_001406827.1:c.667_670delGCCA NP_001393756.1:p.Ala223Profs frameshift NM_001406828.1:c.667_670delGCCA NP_001393757.1:p.Ala223Profs frameshift NM_001406829.1:c.58_61delGCCA NP_001393758.1:p.Ala20Profs frameshift NM_001406830.1:c.667_670delGCCA NP_001393759.1:p.Ala223Profs frameshift NR_176257.1:n.1053_1056delGCCA NR_176258.1:n.1053_1056delGCCA NR_176259.1:n.1053_1056delGCCA NR_176261.1:n.1053_1056delGCCA NC_000002.12:g.47798947_47798950del NC_000002.11:g.48026086_48026089del NG_007111.1:g.20801_20804del LRG_219:g.20801_20804del LRG_219t1:c.964_967del LRG_219p1:p.Ala322Profs - Protein change
- A192fs, A20fs, A322fs
- Other names
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- Canonical SPDI
- NC_000002.12:47798944:CAGCCA:CA
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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 |
9052 | 9358 |
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) |
no assertion criteria provided
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Feb 21, 2023 | RCV003128176.1 |
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
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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
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
(Feb 21, 2023)
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no assertion criteria provided
Method: clinical testing
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Endometrial carcinoma
Affected status: yes
Allele origin:
germline
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CZECANCA consortium
Accession: SCV003804326.1
First in ClinVar: Feb 25, 2023 Last updated: Feb 25, 2023 |
Number of individuals with the variant: 1
Ethnicity/Population group: Slavic
Geographic origin: Czech Republic
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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 Mar 26, 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.