ClinVar Genomic variation as it relates to human health
NM_000251.3(MSH2):c.1696A>C (p.Asn566His)
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.1696A>C (p.Asn566His)
Variation ID: 2676713 Accession: VCV002676713.1
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 2p21 2: 47470999 (GRCh38) [ NCBI UCSC ] 2: 47698138 (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 30, 2023 Dec 30, 2023 Jul 23, 2023 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_000251.3:c.1696A>C MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000242.1:p.Asn566His missense NM_001258281.1:c.1498A>C NP_001245210.1:p.Asn500His missense NM_001406631.1:c.1696A>C NP_001393560.1:p.Asn566His missense NM_001406632.1:c.1696A>C NP_001393561.1:p.Asn566His missense NM_001406633.1:c.1696A>C NP_001393562.1:p.Asn566His missense NM_001406634.1:c.1696A>C NP_001393563.1:p.Asn566His missense NM_001406635.1:c.1696A>C NP_001393564.1:p.Asn566His missense NM_001406636.1:c.1663A>C NP_001393565.1:p.Asn555His missense NM_001406637.1:c.1696A>C NP_001393566.1:p.Asn566His missense NM_001406638.1:c.1735A>C NP_001393567.1:p.Asn579His missense NM_001406639.1:c.1696A>C NP_001393568.1:p.Asn566His missense NM_001406640.1:c.1696A>C NP_001393569.1:p.Asn566His missense NM_001406641.1:c.1696A>C NP_001393570.1:p.Asn566His missense NM_001406642.1:c.1696A>C NP_001393571.1:p.Asn566His missense NM_001406643.1:c.1696A>C NP_001393572.1:p.Asn566His missense NM_001406644.1:c.1696A>C NP_001393573.1:p.Asn566His missense NM_001406645.1:c.1696A>C NP_001393574.1:p.Asn566His missense NM_001406646.1:c.1696A>C NP_001393575.1:p.Asn566His missense NM_001406647.1:c.1546A>C NP_001393576.1:p.Asn516His missense NM_001406648.1:c.1696A>C NP_001393577.1:p.Asn566His missense NM_001406649.1:c.1546A>C NP_001393578.1:p.Asn516His missense NM_001406650.1:c.1546A>C NP_001393579.1:p.Asn516His missense NM_001406651.1:c.1546A>C NP_001393580.1:p.Asn516His missense NM_001406652.1:c.1546A>C NP_001393581.1:p.Asn516His missense NM_001406653.1:c.1636A>C NP_001393582.1:p.Asn546His missense NM_001406654.1:c.1276A>C NP_001393583.1:p.Asn426His missense NM_001406655.1:c.1696A>C NP_001393584.1:p.Asn566His missense NM_001406656.1:c.799A>C NP_001393585.1:p.Asn267His missense NM_001406657.1:c.1662-4026A>C intron variant NM_001406658.1:c.340A>C NP_001393587.1:p.Asn114His missense NM_001406659.1:c.340A>C NP_001393588.1:p.Asn114His missense NM_001406660.1:c.340A>C NP_001393589.1:p.Asn114His missense NM_001406661.1:c.340A>C NP_001393590.1:p.Asn114His missense NM_001406662.1:c.340A>C NP_001393591.1:p.Asn114His missense NM_001406669.1:c.340A>C NP_001393598.1:p.Asn114His missense NM_001406674.1:c.1696A>C NP_001393603.1:p.Asn566His missense NR_176230.1:n.1732A>C non-coding transcript variant NR_176231.1:n.1732A>C non-coding transcript variant NR_176232.1:n.1732A>C non-coding transcript variant NR_176233.1:n.1574A>C non-coding transcript variant NR_176234.1:n.1732A>C non-coding transcript variant NR_176235.1:n.1732A>C non-coding transcript variant NR_176236.1:n.1732A>C non-coding transcript variant NR_176237.1:n.1732A>C non-coding transcript variant NR_176238.1:n.1865A>C non-coding transcript variant NR_176239.1:n.1732A>C non-coding transcript variant NR_176240.1:n.1732A>C non-coding transcript variant NR_176241.1:n.1732A>C non-coding transcript variant NR_176242.1:n.1732A>C non-coding transcript variant NR_176243.1:n.1582A>C non-coding transcript variant NR_176244.1:n.1732A>C non-coding transcript variant NR_176245.1:n.1732A>C non-coding transcript variant NR_176246.1:n.1732A>C non-coding transcript variant NR_176247.1:n.1732A>C non-coding transcript variant NR_176248.1:n.1732A>C non-coding transcript variant NR_176249.1:n.1962A>C non-coding transcript variant NR_176250.1:n.1472A>C non-coding transcript variant NC_000002.12:g.47470999A>C NC_000002.11:g.47698138A>C NG_007110.2:g.72876A>C LRG_218:g.72876A>C LRG_218t1:c.1696A>C LRG_218p1:p.Asn566His - Protein change
- N114H, N267H, N426H, N500H, N516H, N546H, N555H, N566H, N579H
- Other names
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- Canonical SPDI
- NC_000002.12:47470998:A: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
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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 | ||
|---|---|---|---|---|---|---|
| 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
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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
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
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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. |
|---|---|---|---|---|
| Uncertain significance (1) |
criteria provided, single submitter
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Jul 23, 2023 | RCV003470215.1 |
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
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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Uncertain significance
(Jul 23, 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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Baylor Genetics
Accession: SCV004194506.1
First in ClinVar: Dec 30, 2023 Last updated: Dec 30, 2023 |
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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
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.