The c.2291_2297del is a deletion of seven nucleotides that generates a frameshift variant with a premature stop codon. This variant is not present in gnomAD database.
ClinVar Genomic variation as it relates to human health
NM_000251.3(MSH2):c.2291_2297del (p.Trp764fs)
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.
Likely 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_000251.3(MSH2):c.2291_2297del (p.Trp764fs)
Variation ID: 2575237 Accession: VCV002575237.2
- Type and length
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Deletion, 7 bp
- Location
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Cytogenetic: 2p21 2: 47478350-47478356 (GRCh38) [ NCBI UCSC ] 2: 47705489-47705495 (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 Aug 19, 2023 Nov 11, 2023 Apr 4, 2023 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_000251.3:c.2291_2297del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000242.1:p.Trp764fs frameshift NM_001258281.1:c.2093_2099del NP_001245210.1:p.Trp698fs frameshift NM_001406631.1:c.2291_2297del NP_001393560.1:p.Trp764fs frameshift NM_001406632.1:c.2291_2297del NP_001393561.1:p.Trp764fs frameshift NM_001406633.1:c.2291_2297del NP_001393562.1:p.Trp764fs frameshift NM_001406634.1:c.2291_2297del NP_001393563.1:p.Trp764fs frameshift NM_001406635.1:c.2291_2297del NP_001393564.1:p.Trp764fs frameshift NM_001406636.1:c.2258_2264del NP_001393565.1:p.Trp753fs frameshift NM_001406637.1:c.2291_2297del NP_001393566.1:p.Trp764fs frameshift NM_001406638.1:c.2330_2336del NP_001393567.1:p.Trp777fs frameshift NM_001406639.1:c.2291_2297del NP_001393568.1:p.Trp764fs frameshift NM_001406640.1:c.2291_2297del NP_001393569.1:p.Trp764fs frameshift NM_001406641.1:c.2291_2297del NP_001393570.1:p.Trp764fs frameshift NM_001406642.1:c.2291_2297del NP_001393571.1:p.Trp764fs frameshift NM_001406643.1:c.2291_2297del NP_001393572.1:p.Trp764fs frameshift NM_001406644.1:c.2291_2297del NP_001393573.1:p.Trp764fs frameshift NM_001406645.1:c.2291_2297del NP_001393574.1:p.Trp764fs frameshift NM_001406646.1:c.2291_2297del NP_001393575.1:p.Trp764fs frameshift NM_001406647.1:c.2141_2147del NP_001393576.1:p.Trp714fs frameshift NM_001406648.1:c.2291_2297del NP_001393577.1:p.Trp764fs frameshift NM_001406649.1:c.2141_2147del NP_001393578.1:p.Trp714fs frameshift NM_001406650.1:c.2141_2147del NP_001393579.1:p.Trp714fs frameshift NM_001406651.1:c.2141_2147del NP_001393580.1:p.Trp714fs frameshift NM_001406652.1:c.2141_2147del NP_001393581.1:p.Trp714fs frameshift NM_001406653.1:c.2231_2237del NP_001393582.1:p.Trp744fs frameshift NM_001406654.1:c.1871_1877del NP_001393583.1:p.Trp624fs frameshift NM_001406656.1:c.1394_1400del NP_001393585.1:p.Trp465fs frameshift NM_001406658.1:c.935_941del NP_001393587.1:p.Trp312fs frameshift NM_001406659.1:c.935_941del NP_001393588.1:p.Trp312fs frameshift NM_001406660.1:c.935_941del NP_001393589.1:p.Trp312fs frameshift NM_001406661.1:c.935_941del NP_001393590.1:p.Trp312fs frameshift NM_001406662.1:c.935_941del NP_001393591.1:p.Trp312fs frameshift NM_001406669.1:c.935_941del NP_001393598.1:p.Trp312fs frameshift NM_001406674.1:c.2291_2297del NP_001393603.1:p.Trp764fs frameshift NR_176230.1:n.2327_2333del non-coding transcript variant NR_176231.1:n.2295_2301del non-coding transcript variant NR_176232.1:n.2327_2333del non-coding transcript variant NR_176233.1:n.2169_2175del non-coding transcript variant NR_176234.1:n.2327_2333del non-coding transcript variant NR_176235.1:n.2327_2333del non-coding transcript variant NR_176236.1:n.2327_2333del non-coding transcript variant NR_176237.1:n.2327_2333del non-coding transcript variant NR_176238.1:n.2460_2466del non-coding transcript variant NR_176239.1:n.2327_2333del non-coding transcript variant NR_176240.1:n.2122_2128del non-coding transcript variant NR_176241.1:n.2327_2333del non-coding transcript variant NR_176242.1:n.2327_2333del non-coding transcript variant NR_176243.1:n.2177_2183del non-coding transcript variant NR_176244.1:n.2327_2333del non-coding transcript variant NR_176245.1:n.2327_2333del non-coding transcript variant NR_176246.1:n.2327_2333del non-coding transcript variant NR_176247.1:n.2327_2333del non-coding transcript variant NR_176248.1:n.2327_2333del non-coding transcript variant NR_176249.1:n.2557_2563del non-coding transcript variant NR_176250.1:n.2067_2073del non-coding transcript variant NC_000002.12:g.47478352_47478358del NC_000002.11:g.47705491_47705497del NG_007110.2:g.80229_80235del LRG_218:g.80229_80235del LRG_218t1:c.2291_2297del LRG_218p1:p.Trp764Tyrfs - Protein change
- W312fs, W465fs, W624fs, W698fs, W714fs, W744fs, W753fs, W764fs, W777fs
- Other names
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- Canonical SPDI
- NC_000002.12:47478349:ATGGGCTAT:AT
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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 | ||
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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
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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| MSH2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
7404 | 7566 | |
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
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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. |
|---|---|---|---|---|
| Likely pathogenic (1) |
criteria provided, single submitter
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Apr 4, 2023 | RCV003320438.2 |
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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Likely pathogenic
(Apr 04, 2023)
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criteria provided, single submitter
Method: clinical testing
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Lynch syndrome 1
Affected status: yes
Allele origin:
germline
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Medical Genetics UMG, Mater Domini University Hospital/ Magna Graecia University of Catanzaro
Accession: SCV004024456.2
First in ClinVar: Aug 19, 2023 Last updated: Nov 11, 2023 |
Comment:
The c.2291_2297del is a deletion of seven nucleotides that generates a frameshift variant with a premature stop codon. This variant is not present in gnomAD … (more)
The c.2291_2297del is a deletion of seven nucleotides that generates a frameshift variant with a premature stop codon. This variant is not present in gnomAD database. (less)
Sex: female
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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:
The c.2291_2297del is a deletion of seven nucleotides that generates a frameshift variant with a premature stop codon. This variant is not present in gnomAD database.
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 Jun 10, 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.