The c.609_611delAGA variant (also known as p.E207del) is located in coding exon 3 of the MSH6 gene. This variant results from an in-frame AGA deletion at nucleotide positions 609 to 611. This results in the in-frame deletion of a glutamic acid at codon 207. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be neutral by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
ClinVar Genomic variation as it relates to human health
NM_000179.3(MSH6):c.606AGA[1] (p.Glu207del)
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.
Uncertain significance
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_000179.3(MSH6):c.606AGA[1] (p.Glu207del)
Variation ID: 1751506 Accession: VCV001751506.2
- Type and length
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Microsatellite, 3 bp
- Location
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Cytogenetic: 2p16.3 2: 47796042-47796044 (GRCh38) [ NCBI UCSC ] 2: 48023181-48023183 (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 Jul 6, 2021 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_000179.3:c.606AGA[1] MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000170.1:p.Glu207del inframe deletion NM_000179.2:c.606_608AGA[1] NP_000170.1:p.Glu207del inframe indel NM_000179.2:c.609_611delAGA inframe indel NM_001281492.2:c.238-2566_238-2564del intron variant NM_001281493.2:c.-279-2566_-279-2564del intron variant NM_001281494.2:c.-297AGA[1] 5 prime UTR NM_001406795.1:c.702_704AGA[1] NP_001393724.1:p.Glu239del inframe indel NM_001406796.1:c.606_608AGA[1] NP_001393725.1:p.Glu207del inframe indel NM_001406797.1:c.309_311AGA[1] NP_001393726.1:p.Glu108del inframe indel NM_001406798.1:c.606_608AGA[1] NP_001393727.1:p.Glu207del inframe indel NM_001406799.1:c.81_83AGA[1] NP_001393728.1:p.Glu32del inframe indel NM_001406800.1:c.606_608AGA[1] NP_001393729.1:p.Glu207del inframe indel NM_001406801.1:c.309_311AGA[1] NP_001393730.1:p.Glu108del inframe indel NM_001406802.1:c.702_704AGA[1] NP_001393731.1:p.Glu239del inframe indel NM_001406803.1:c.606_608AGA[1] NP_001393732.1:p.Glu207del inframe indel NM_001406804.1:c.528_530AGA[1] NP_001393733.1:p.Glu181del inframe indel NM_001406805.1:c.309_311AGA[1] NP_001393734.1:p.Glu108del inframe indel NM_001406806.1:c.81_83AGA[1] NP_001393735.1:p.Glu32del inframe indel NM_001406807.1:c.81_83AGA[1] NP_001393736.1:p.Glu32del inframe indel NM_001406808.1:c.606_608AGA[1] NP_001393737.1:p.Glu207del inframe indel NM_001406809.1:c.606_608AGA[1] NP_001393738.1:p.Glu207del inframe indel NM_001406813.1:c.612_614AGA[1] NP_001393742.1:p.Glu209del inframe indel NM_001406814.1:c.-389_-387AGA[1] NM_001406817.1:c.606_608AGA[1] NP_001393746.1:p.Glu207del inframe indel NM_001406818.1:c.309_311AGA[1] NP_001393747.1:p.Glu108del inframe indel NM_001406819.1:c.309_311AGA[1] NP_001393748.1:p.Glu108del inframe indel NM_001406820.1:c.309_311AGA[1] NP_001393749.1:p.Glu108del inframe indel NM_001406821.1:c.309_311AGA[1] NP_001393750.1:p.Glu108del inframe indel NM_001406822.1:c.309_311AGA[1] NP_001393751.1:p.Glu108del inframe indel NM_001406824.1:c.309_311AGA[1] NP_001393753.1:p.Glu108del inframe indel NM_001406825.1:c.309_311AGA[1] NP_001393754.1:p.Glu108del inframe indel NM_001406826.1:c.438_440AGA[1] NP_001393755.1:p.Glu151del inframe indel NM_001406827.1:c.309_311AGA[1] NP_001393756.1:p.Glu108del inframe indel NM_001406828.1:c.309_311AGA[1] NP_001393757.1:p.Glu108del inframe indel NM_001406830.1:c.309_311AGA[1] NP_001393759.1:p.Glu108del inframe indel NM_001407362.1:c.606_608AGA[1] NP_001394291.1:p.Glu207del inframe indel NR_176256.1:n.695_697AGA[1] NR_176257.1:n.695_697AGA[1] NR_176258.1:n.695_697AGA[1] NR_176259.1:n.695_697AGA[1] NR_176260.1:n.695_697AGA[1] NR_176261.1:n.695_697AGA[1] NC_000002.12:g.47796042AGA[1] NC_000002.11:g.48023181AGA[1] NG_007111.1:g.17896AGA[1] LRG_219:g.17896AGA[1] LRG_219t1:c.606_608AGA[1] LRG_219p1:p.Glu207del - Protein change
- E151del, E181del, E207del, E239del, E32del, E108del, E209del
- Other names
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- Canonical SPDI
- NC_000002.12:47796041:AGAAGA:AGA
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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
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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| MSH6 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
9158 | 9474 | |
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. |
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| Uncertain significance (1) |
criteria provided, single submitter
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Jul 6, 2021 | RCV002360054.2 |
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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Uncertain significance
(Jul 06, 2021)
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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: SCV002657998.2
First in ClinVar: Nov 29, 2022 Last updated: May 01, 2024 |
Comment:
The c.609_611delAGA variant (also known as p.E207del) is located in coding exon 3 of the MSH6 gene. This variant results from an in-frame AGA deletion … (more)
The c.609_611delAGA variant (also known as p.E207del) is located in coding exon 3 of the MSH6 gene. This variant results from an in-frame AGA deletion at nucleotide positions 609 to 611. This results in the in-frame deletion of a glutamic acid at codon 207. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be neutral by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. (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:
The c.609_611delAGA variant (also known as p.E207del) is located in coding exon 3 of the MSH6 gene. This variant results from an in-frame AGA deletion at nucleotide positions 609 to 611. This results in the in-frame deletion of a glutamic acid at codon 207. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be neutral by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
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.