This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
ClinVar Genomic variation as it relates to human health
NM_000251.3(MSH2):c.1739A>C (p.Glu580Ala)
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)
Help
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 benign
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.1739A>C (p.Glu580Ala)
Variation ID: 1779135 Accession: VCV001779135.2
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 2p21 2: 47471042 (GRCh38) [ NCBI UCSC ] 2: 47698181 (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 Jan 11, 2022 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_000251.3:c.1739A>C MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000242.1:p.Glu580Ala missense NM_001258281.1:c.1541A>C NP_001245210.1:p.Glu514Ala missense NM_001406631.1:c.1739A>C NP_001393560.1:p.Glu580Ala missense NM_001406632.1:c.1739A>C NP_001393561.1:p.Glu580Ala missense NM_001406633.1:c.1739A>C NP_001393562.1:p.Glu580Ala missense NM_001406634.1:c.1739A>C NP_001393563.1:p.Glu580Ala missense NM_001406635.1:c.1739A>C NP_001393564.1:p.Glu580Ala missense NM_001406636.1:c.1706A>C NP_001393565.1:p.Glu569Ala missense NM_001406637.1:c.1739A>C NP_001393566.1:p.Glu580Ala missense NM_001406638.1:c.1778A>C NP_001393567.1:p.Glu593Ala missense NM_001406639.1:c.1739A>C NP_001393568.1:p.Glu580Ala missense NM_001406640.1:c.1739A>C NP_001393569.1:p.Glu580Ala missense NM_001406641.1:c.1739A>C NP_001393570.1:p.Glu580Ala missense NM_001406642.1:c.1739A>C NP_001393571.1:p.Glu580Ala missense NM_001406643.1:c.1739A>C NP_001393572.1:p.Glu580Ala missense NM_001406644.1:c.1739A>C NP_001393573.1:p.Glu580Ala missense NM_001406645.1:c.1739A>C NP_001393574.1:p.Glu580Ala missense NM_001406646.1:c.1739A>C NP_001393575.1:p.Glu580Ala missense NM_001406647.1:c.1589A>C NP_001393576.1:p.Glu530Ala missense NM_001406648.1:c.1739A>C NP_001393577.1:p.Glu580Ala missense NM_001406649.1:c.1589A>C NP_001393578.1:p.Glu530Ala missense NM_001406650.1:c.1589A>C NP_001393579.1:p.Glu530Ala missense NM_001406651.1:c.1589A>C NP_001393580.1:p.Glu530Ala missense NM_001406652.1:c.1589A>C NP_001393581.1:p.Glu530Ala missense NM_001406653.1:c.1679A>C NP_001393582.1:p.Glu560Ala missense NM_001406654.1:c.1319A>C NP_001393583.1:p.Glu440Ala missense NM_001406655.1:c.1739A>C NP_001393584.1:p.Glu580Ala missense NM_001406656.1:c.842A>C NP_001393585.1:p.Glu281Ala missense NM_001406658.1:c.383A>C NP_001393587.1:p.Glu128Ala missense NM_001406659.1:c.383A>C NP_001393588.1:p.Glu128Ala missense NM_001406660.1:c.383A>C NP_001393589.1:p.Glu128Ala missense NM_001406661.1:c.383A>C NP_001393590.1:p.Glu128Ala missense NM_001406662.1:c.383A>C NP_001393591.1:p.Glu128Ala missense NM_001406669.1:c.383A>C NP_001393598.1:p.Glu128Ala missense NM_001406674.1:c.1739A>C NP_001393603.1:p.Glu580Ala missense NR_176230.1:n.1775A>C NR_176231.1:n.1775A>C NR_176232.1:n.1775A>C NR_176233.1:n.1617A>C NR_176234.1:n.1775A>C NR_176235.1:n.1775A>C NR_176236.1:n.1775A>C NR_176237.1:n.1775A>C NR_176238.1:n.1908A>C NR_176239.1:n.1775A>C NR_176240.1:n.1775A>C NR_176241.1:n.1775A>C NR_176242.1:n.1775A>C NR_176243.1:n.1625A>C NR_176244.1:n.1775A>C NR_176245.1:n.1775A>C NR_176246.1:n.1775A>C NR_176247.1:n.1775A>C NR_176248.1:n.1775A>C NR_176249.1:n.2005A>C NR_176250.1:n.1515A>C NC_000002.12:g.47471042A>C NC_000002.11:g.47698181A>C NG_007110.2:g.72919A>C LRG_218:g.72919A>C LRG_218t1:c.1739A>C LRG_218p1:p.Glu580Ala - Protein change
- E560A, E128A, E281A, E440A, E593A, E530A, E580A, E514A, E569A
- Other names
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- Canonical SPDI
- NC_000002.12:47471041: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
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 | ||
|---|---|---|---|---|---|---|
| HI score
Help
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
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 |
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
Help
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 benign (1) |
criteria provided, single submitter
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Jan 11, 2022 | RCV002399288.2 |
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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Likely benign
(Jan 11, 2022)
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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: SCV002710228.2
First in ClinVar: Nov 29, 2022 Last updated: May 01, 2024 |
Comment:
This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of … (more)
This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. (less)
|
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:
This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
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 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.