The c.3702_3710delACTTGCTGA variant (also known as p.L1235_E1237del) is located in coding exon 8 of the MSH6 gene. This variant results from an in-frame ACTTGCTGA deletion at nucleotide positions 3702 to 3710. This results in the in-frame deletion of three amino acids at codon 1235. The amino acid region is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious 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.3702_3710del (p.Leu1235_Glu1237del)
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.3702_3710del (p.Leu1235_Glu1237del)
Variation ID: 1734109 Accession: VCV001734109.2
- Type and length
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Deletion, 9 bp
- Location
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Cytogenetic: 2p16.3 2: 47806257-47806265 (GRCh38) [ NCBI UCSC ] 2: 48033396-48033404 (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 Apr 12, 2022 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_000179.3:c.3702_3710del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000170.1:p.Leu1235_Glu1237del inframe deletion NM_001281492.2:c.3312_3320del NP_001268421.1:p.Leu1105_Glu1107del inframe deletion NM_001281493.2:c.2796_2804del NP_001268422.1:p.Leu933_Glu935del inframe deletion NM_001281494.2:c.2796_2804del NP_001268423.1:p.Leu933_Glu935del inframe deletion NM_001406795.1:c.3798_3806delACTTGCTGA NP_001393724.1:p.Leu1267_Glu1269del inframe indel NM_001406796.1:c.3702_3710delACTTGCTGA NP_001393725.1:p.Leu1235_Glu1237del inframe indel NM_001406797.1:c.3405_3413delACTTGCTGA NP_001393726.1:p.Leu1136_Glu1138del inframe indel NM_001406798.1:c.3528_3536delACTTGCTGA NP_001393727.1:p.Leu1177_Glu1179del inframe indel NM_001406799.1:c.3177_3185delACTTGCTGA NP_001393728.1:p.Leu1060_Glu1062del inframe indel NM_001406800.1:c.3702_3710delACTTGCTGA NP_001393729.1:p.Leu1235_Glu1237del inframe indel NM_001406801.1:c.3405_3413delACTTGCTGA NP_001393730.1:p.Leu1136_Glu1138del inframe indel NM_001406802.1:c.3798_3806delACTTGCTGA NP_001393731.1:p.Leu1267_Glu1269del inframe indel NM_001406803.1:c.2838_2846delACTTGCTGA NP_001393732.1:p.Leu947_Glu949del inframe indel NM_001406804.1:c.3624_3632delACTTGCTGA NP_001393733.1:p.Leu1209_Glu1211del inframe indel NM_001406805.1:c.3405_3413delACTTGCTGA NP_001393734.1:p.Leu1136_Glu1138del inframe indel NM_001406806.1:c.3177_3185delACTTGCTGA NP_001393735.1:p.Leu1060_Glu1062del inframe indel NM_001406807.1:c.3177_3185delACTTGCTGA NP_001393736.1:p.Leu1060_Glu1062del inframe indel NM_001406808.1:c.3702_3710delACTTGCTGA NP_001393737.1:p.Leu1235_Glu1237del inframe indel NM_001406809.1:c.3702_3710delACTTGCTGA NP_001393738.1:p.Leu1235_Glu1237del inframe indel NM_001406811.1:c.2796_2804delACTTGCTGA NP_001393740.1:p.Leu933_Glu935del inframe indel NM_001406812.1:c.2796_2804delACTTGCTGA NP_001393741.1:p.Leu933_Glu935del inframe indel NM_001406813.1:c.3708_3716delACTTGCTGA NP_001393742.1:p.Leu1237_Glu1239del inframe indel NM_001406814.1:c.2796_2804delACTTGCTGA NP_001393743.1:p.Leu933_Glu935del inframe indel NM_001406815.1:c.2796_2804delACTTGCTGA NP_001393744.1:p.Leu933_Glu935del inframe indel NM_001406816.1:c.2796_2804delACTTGCTGA NP_001393745.1:p.Leu933_Glu935del inframe indel NM_001406817.1:c.2136_2144delACTTGCTGA NP_001393746.1:p.Leu713_Glu715del inframe indel NM_001406818.1:c.3405_3413delACTTGCTGA NP_001393747.1:p.Leu1136_Glu1138del inframe indel NM_001406819.1:c.3405_3413delACTTGCTGA NP_001393748.1:p.Leu1136_Glu1138del inframe indel NM_001406820.1:c.3405_3413delACTTGCTGA NP_001393749.1:p.Leu1136_Glu1138del inframe indel NM_001406821.1:c.3405_3413delACTTGCTGA NP_001393750.1:p.Leu1136_Glu1138del inframe indel NM_001406822.1:c.3405_3413delACTTGCTGA NP_001393751.1:p.Leu1136_Glu1138del inframe indel NM_001406823.1:c.2796_2804delACTTGCTGA NP_001393752.1:p.Leu933_Glu935del inframe indel NM_001406824.1:c.3405_3413delACTTGCTGA NP_001393753.1:p.Leu1136_Glu1138del inframe indel NM_001406825.1:c.3405_3413delACTTGCTGA NP_001393754.1:p.Leu1136_Glu1138del inframe indel NM_001406826.1:c.3534_3542delACTTGCTGA NP_001393755.1:p.Leu1179_Glu1181del inframe indel NM_001406827.1:c.3405_3413delACTTGCTGA NP_001393756.1:p.Leu1136_Glu1138del inframe indel NM_001406828.1:c.3405_3413delACTTGCTGA NP_001393757.1:p.Leu1136_Glu1138del inframe indel NM_001406829.1:c.2796_2804delACTTGCTGA NP_001393758.1:p.Leu933_Glu935del inframe indel NM_001406830.1:c.3405_3413delACTTGCTGA NP_001393759.1:p.Leu1136_Glu1138del inframe indel NM_001406831.1:c.483_491delACTTGCTGA NP_001393760.1:p.Leu162_Glu164del inframe indel NM_001406832.1:c.549_557delACTTGCTGA NP_001393761.1:p.Leu184_Glu186del inframe indel NM_001407362.1:c.1647_1655delACTTGCTGA NP_001394291.1:p.Leu550_Glu552del inframe indel NR_176256.1:n.2632_2640delACTTGCTGA NR_176257.1:n.3963_3971delACTTGCTGA NR_176258.1:n.3892_3900delACTTGCTGA NR_176259.1:n.3791_3799delACTTGCTGA NR_176260.1:n.1736_1744delACTTGCTGA NR_176261.1:n.3673_3681delACTTGCTGA NC_000002.12:g.47806259_47806267del NC_000002.11:g.48033398_48033406del NG_007111.1:g.28113_28121del NG_008397.1:g.104411_104419del LRG_219:g.28113_28121del LRG_219t1:c.3702_3710del LRG_219p1:p.Leu1235_Glu1237del - Protein change
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- Other names
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- Canonical SPDI
- NC_000002.12:47806256:GAACTTGCTGA:GA
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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 |
9159 | 9475 | |
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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Apr 12, 2022 | RCV002348936.2 |
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
(Apr 12, 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: SCV002621327.2
First in ClinVar: Nov 29, 2022 Last updated: May 01, 2024 |
Comment:
The c.3702_3710delACTTGCTGA variant (also known as p.L1235_E1237del) is located in coding exon 8 of the MSH6 gene. This variant results from an in-frame ACTTGCTGA deletion … (more)
The c.3702_3710delACTTGCTGA variant (also known as p.L1235_E1237del) is located in coding exon 8 of the MSH6 gene. This variant results from an in-frame ACTTGCTGA deletion at nucleotide positions 3702 to 3710. This results in the in-frame deletion of three amino acids at codon 1235. The amino acid region is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious 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)
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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.3702_3710delACTTGCTGA variant (also known as p.L1235_E1237del) is located in coding exon 8 of the MSH6 gene. This variant results from an in-frame ACTTGCTGA deletion at nucleotide positions 3702 to 3710. This results in the in-frame deletion of three amino acids at codon 1235. The amino acid region is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious 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.