ClinVar Genomic variation as it relates to human health
NM_000251.3(MSH2):c.2074_2076dup (p.Gly692_Cys693insGly)
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.2074_2076dup (p.Gly692_Cys693insGly)
Variation ID: 1785435 Accession: VCV001785435.2
- Type and length
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Duplication, 3 bp
- Location
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Cytogenetic: 2p21 2: 47476434-47476435 (GRCh38) [ NCBI UCSC ] 2: 47703573-47703574 (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 Nov 29, 2022 May 1, 2024 Mar 4, 2019 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000251.3:c.2074_2076dup MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000242.1:p.Gly692_Cys693insGly inframe insertion NM_001258281.1:c.1876_1878dup NP_001245210.1:p.Gly626_Cys627insGly inframe insertion NM_001406631.1:c.2074_2076dup NP_001393560.1:p.Gly692_Cys693insGly inframe indel NM_001406632.1:c.2074_2076dup NP_001393561.1:p.Gly692_Cys693insGly inframe indel NM_001406633.1:c.2074_2076dup NP_001393562.1:p.Gly692_Cys693insGly inframe indel NM_001406634.1:c.2074_2076dup NP_001393563.1:p.Gly692_Cys693insGly inframe indel NM_001406635.1:c.2074_2076dup NP_001393564.1:p.Gly692_Cys693insGly inframe indel NM_001406636.1:c.2041_2043dup NP_001393565.1:p.Gly681_Cys682insGly inframe indel NM_001406637.1:c.2074_2076dup NP_001393566.1:p.Gly692_Cys693insGly inframe indel NM_001406638.1:c.2113_2115dup NP_001393567.1:p.Gly705_Cys706insGly inframe indel NM_001406639.1:c.2074_2076dup NP_001393568.1:p.Gly692_Cys693insGly inframe indel NM_001406640.1:c.2074_2076dup NP_001393569.1:p.Gly692_Cys693insGly inframe indel NM_001406641.1:c.2074_2076dup NP_001393570.1:p.Gly692_Cys693insGly inframe indel NM_001406642.1:c.2074_2076dup NP_001393571.1:p.Gly692_Cys693insGly inframe indel NM_001406643.1:c.2074_2076dup NP_001393572.1:p.Gly692_Cys693insGly inframe indel NM_001406644.1:c.2074_2076dup NP_001393573.1:p.Gly692_Cys693insGly inframe indel NM_001406645.1:c.2074_2076dup NP_001393574.1:p.Gly692_Cys693insGly inframe indel NM_001406646.1:c.2074_2076dup NP_001393575.1:p.Gly692_Cys693insGly inframe indel NM_001406647.1:c.1924_1926dup NP_001393576.1:p.Gly642_Cys643insGly inframe indel NM_001406648.1:c.2074_2076dup NP_001393577.1:p.Gly692_Cys693insGly inframe indel NM_001406649.1:c.1924_1926dup NP_001393578.1:p.Gly642_Cys643insGly inframe indel NM_001406650.1:c.1924_1926dup NP_001393579.1:p.Gly642_Cys643insGly inframe indel NM_001406651.1:c.1924_1926dup NP_001393580.1:p.Gly642_Cys643insGly inframe indel NM_001406652.1:c.1924_1926dup NP_001393581.1:p.Gly642_Cys643insGly inframe indel NM_001406653.1:c.2014_2016dup NP_001393582.1:p.Gly672_Cys673insGly inframe indel NM_001406654.1:c.1654_1656dup NP_001393583.1:p.Gly552_Cys553insGly inframe indel NM_001406656.1:c.1177_1179dup NP_001393585.1:p.Gly393_Cys394insGly inframe indel NM_001406658.1:c.718_720dup NP_001393587.1:p.Gly240_Cys241insGly inframe indel NM_001406659.1:c.718_720dup NP_001393588.1:p.Gly240_Cys241insGly inframe indel NM_001406660.1:c.718_720dup NP_001393589.1:p.Gly240_Cys241insGly inframe indel NM_001406661.1:c.718_720dup NP_001393590.1:p.Gly240_Cys241insGly inframe indel NM_001406662.1:c.718_720dup NP_001393591.1:p.Gly240_Cys241insGly inframe indel NM_001406669.1:c.718_720dup NP_001393598.1:p.Gly240_Cys241insGly inframe indel NM_001406674.1:c.2074_2076dup NP_001393603.1:p.Gly692_Cys693insGly inframe indel NR_176230.1:n.2110_2112dup NR_176231.1:n.2110_2112dup NR_176232.1:n.2110_2112dup NR_176233.1:n.1952_1954dup NR_176234.1:n.2110_2112dup NR_176235.1:n.2110_2112dup NR_176236.1:n.2110_2112dup NR_176237.1:n.2110_2112dup NR_176238.1:n.2243_2245dup NR_176239.1:n.2110_2112dup NR_176241.1:n.2110_2112dup NR_176242.1:n.2110_2112dup NR_176243.1:n.1960_1962dup NR_176244.1:n.2110_2112dup NR_176245.1:n.2110_2112dup NR_176246.1:n.2110_2112dup NR_176247.1:n.2110_2112dup NR_176248.1:n.2110_2112dup NR_176249.1:n.2340_2342dup NR_176250.1:n.1850_1852dup NC_000002.12:g.47476435_47476437dup NC_000002.11:g.47703574_47703576dup NG_007110.2:g.78312_78314dup LRG_218:g.78312_78314dup LRG_218t1:c.2074_2076dup LRG_218p1:p.Gly692_Cys693insGly - Protein change
- Other names
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- Canonical SPDI
- NC_000002.12:47476434:GGG:GGGGGG
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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
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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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MSH2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
7401 | 7563 |
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
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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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Uncertain significance (1) |
criteria provided, single submitter
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Mar 4, 2019 | RCV002422184.2 |
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
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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Uncertain significance
(Mar 04, 2019)
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criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV002725710.2
First in ClinVar: Nov 29, 2022 Last updated: May 01, 2024 |
Comment:
The c.2074_2076dupGGG variant (also known as p.G692dup), located in coding exon 13 of the MSH2 gene, results from an in-frame duplication of GGG at nucleotide … (more)
The c.2074_2076dupGGG variant (also known as p.G692dup), located in coding exon 13 of the MSH2 gene, results from an in-frame duplication of GGG at nucleotide positions 2074 to 2076. This results in the duplication of an extra residue between codons 692 and 693. This amino acid position is highly conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. (less)
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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 May 01, 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.