ClinVar Genomic variation as it relates to human health
NM_000251.3(MSH2):c.224dup (p.Gln76fs)
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_000251.3(MSH2):c.224dup (p.Gln76fs)
Variation ID: 2673376 Accession: VCV002673376.1
- Type and length
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Duplication, 1 bp
- Location
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Cytogenetic: 2p21 2: 47408412-47408413 (GRCh38) [ NCBI UCSC ] 2: 47635551-47635552 (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 Jul 26, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000251.3:c.224dup MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000242.1:p.Gln76fs frameshift NM_001258281.1:c.26dup NP_001245210.1:p.Gln10fs frameshift NM_001406631.1:c.224dup NP_001393560.1:p.Gln76fs frameshift NM_001406632.1:c.224dup NP_001393561.1:p.Gln76fs frameshift NM_001406633.1:c.224dup NP_001393562.1:p.Gln76fs frameshift NM_001406634.1:c.224dup NP_001393563.1:p.Gln76fs frameshift NM_001406635.1:c.224dup NP_001393564.1:p.Gln76fs frameshift NM_001406636.1:c.224dup NP_001393565.1:p.Gln76fs frameshift NM_001406637.1:c.224dup NP_001393566.1:p.Gln76fs frameshift NM_001406638.1:c.224dup NP_001393567.1:p.Gln76fs frameshift NM_001406639.1:c.224dup NP_001393568.1:p.Gln76fs frameshift NM_001406640.1:c.224dup NP_001393569.1:p.Gln76fs frameshift NM_001406641.1:c.224dup NP_001393570.1:p.Gln76fs frameshift NM_001406642.1:c.224dup NP_001393571.1:p.Gln76fs frameshift NM_001406643.1:c.224dup NP_001393572.1:p.Gln76fs frameshift NM_001406644.1:c.224dup NP_001393573.1:p.Gln76fs frameshift NM_001406645.1:c.224dup NP_001393574.1:p.Gln76fs frameshift NM_001406646.1:c.224dup NP_001393575.1:p.Gln76fs frameshift NM_001406647.1:c.224dup NP_001393576.1:p.Gln76fs frameshift NM_001406648.1:c.224dup NP_001393577.1:p.Gln76fs frameshift NM_001406649.1:c.224dup NP_001393578.1:p.Gln76fs frameshift NM_001406650.1:c.224dup NP_001393579.1:p.Gln76fs frameshift NM_001406651.1:c.224dup NP_001393580.1:p.Gln76fs frameshift NM_001406652.1:c.224dup NP_001393581.1:p.Gln76fs frameshift NM_001406653.1:c.212-48dup intron variant NM_001406654.1:c.-129-68dup intron variant NM_001406655.1:c.224dup NP_001393584.1:p.Gln76fs frameshift NM_001406656.1:c.-772dup 5 prime UTR NM_001406657.1:c.224dup NP_001393586.1:p.Gln76fs frameshift NM_001406658.1:c.-1095dup 5 prime UTR NM_001406659.1:c.-1245dup 5 prime UTR NM_001406660.1:c.-1442dup 5 prime UTR NM_001406661.1:c.-1397dup 5 prime UTR NM_001406662.1:c.-1314dup 5 prime UTR NM_001406666.1:c.224dup NP_001393595.1:p.Gln76fs frameshift NM_001406669.1:c.-1245dup 5 prime UTR NM_001406672.1:c.224dup NP_001393601.1:p.Gln76fs frameshift NM_001406674.1:c.224dup NP_001393603.1:p.Gln76fs frameshift NR_176230.1:n.260dup non-coding transcript variant NR_176231.1:n.260dup non-coding transcript variant NR_176232.1:n.260dup non-coding transcript variant NR_176233.1:n.252dup non-coding transcript variant NR_176234.1:n.260dup non-coding transcript variant NR_176235.1:n.260dup non-coding transcript variant NR_176236.1:n.260dup non-coding transcript variant NR_176237.1:n.260dup non-coding transcript variant NR_176238.1:n.260dup non-coding transcript variant NR_176239.1:n.260dup non-coding transcript variant NR_176240.1:n.260dup non-coding transcript variant NR_176241.1:n.260dup non-coding transcript variant NR_176242.1:n.260dup non-coding transcript variant NR_176243.1:n.260dup non-coding transcript variant NR_176244.1:n.260dup non-coding transcript variant NR_176245.1:n.260dup non-coding transcript variant NR_176246.1:n.260dup non-coding transcript variant NR_176247.1:n.260dup non-coding transcript variant NR_176248.1:n.260dup non-coding transcript variant NR_176249.1:n.260dup non-coding transcript variant NR_176250.1:n.260dup non-coding transcript variant NC_000002.12:g.47408413dup NC_000002.11:g.47635552dup NG_007110.2:g.10290dup LRG_218:g.10290dup LRG_218t1:c.224dup LRG_218p1:p.Gln76Alafs - Protein change
- Q10fs, Q76fs
- Other names
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- Canonical SPDI
- NC_000002.12:47408412: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
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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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MSH2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
7404 | 7566 |
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
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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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Jul 26, 2023 | RCV003450099.1 |
Submissions - Germline
Classification
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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
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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
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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
(Jul 26, 2023)
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criteria provided, single submitter
Method: clinical testing
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Lynch syndrome 1
Affected status: unknown
Allele origin:
unknown
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Myriad Genetics, Inc.
Accession: SCV004187817.1
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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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 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.