The c.3830_3832delACC variant (also known as p.D1277_P1278delinsA) is located in coding exon 9 of the MSH6 gene. This variant results from an in-frame ACC deletion at nucleotide positions 3830 to 3832. The at codon 1277 is replaced by alanine , an amino acid with highly similar properties. This amino acid region is highly 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.3830_3832del (p.Asp1277_Pro1278delinsAla)
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.
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.3830_3832del (p.Asp1277_Pro1278delinsAla)
Variation ID: 1735349 Accession: VCV001735349.2
- Type and length
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Deletion, 3 bp
- Location
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Cytogenetic: 2p16.3 2: 47806480-47806482 (GRCh38) [ NCBI UCSC ] 2: 48033619-48033621 (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 Oct 5, 2020 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_000179.3:c.3830_3832del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000170.1:p.Asp1277_Pro1278delinsAla inframe indel NM_001281492.2:c.3440_3442del NP_001268421.1:p.Asp1147_Pro1148delinsAla inframe indel NM_001281493.2:c.2924_2926del NP_001268422.1:p.Asp975_Pro976delinsAla inframe indel NM_001281494.2:c.2924_2926del NP_001268423.1:p.Asp975_Pro976delinsAla inframe indel NM_001406795.1:c.3926_3928delACC NP_001393724.1:p.Asp1309_Pro1310delinsAla inframe indel NM_001406796.1:c.3830_3832delACC NP_001393725.1:p.Asp1277_Pro1278delinsAla inframe indel NM_001406797.1:c.3533_3535delACC NP_001393726.1:p.Asp1178_Pro1179delinsAla inframe indel NM_001406798.1:c.3656_3658delACC NP_001393727.1:p.Asp1219_Pro1220delinsAla inframe indel NM_001406799.1:c.3305_3307delACC NP_001393728.1:p.Asp1102_Pro1103delinsAla inframe indel NM_001406800.1:c.3817_3819delACC NP_001393729.1:p.Thr1273del inframe indel NM_001406801.1:c.3533_3535delACC NP_001393730.1:p.Asp1178_Pro1179delinsAla inframe indel NM_001406803.1:c.2966_2968delACC NP_001393732.1:p.Asp989_Pro990delinsAla inframe indel NM_001406804.1:c.3752_3754delACC NP_001393733.1:p.Asp1251_Pro1252delinsAla inframe indel NM_001406805.1:c.3533_3535delACC NP_001393734.1:p.Asp1178_Pro1179delinsAla inframe indel NM_001406806.1:c.3305_3307delACC NP_001393735.1:p.Asp1102_Pro1103delinsAla inframe indel NM_001406807.1:c.3305_3307delACC NP_001393736.1:p.Asp1102_Pro1103delinsAla inframe indel NM_001406808.1:c.3830_3832delACC NP_001393737.1:p.Asp1277_Pro1278delinsAla inframe indel NM_001406809.1:c.3830_3832delACC NP_001393738.1:p.Asp1277_Pro1278delinsAla inframe indel NM_001406811.1:c.2924_2926delACC NP_001393740.1:p.Asp975_Pro976delinsAla inframe indel NM_001406812.1:c.2924_2926delACC NP_001393741.1:p.Asp975_Pro976delinsAla inframe indel NM_001406813.1:c.3836_3838delACC NP_001393742.1:p.Asp1279_Pro1280delinsAla inframe indel NM_001406814.1:c.2924_2926delACC NP_001393743.1:p.Asp975_Pro976delinsAla inframe indel NM_001406815.1:c.2924_2926delACC NP_001393744.1:p.Asp975_Pro976delinsAla inframe indel NM_001406816.1:c.2924_2926delACC NP_001393745.1:p.Asp975_Pro976delinsAla inframe indel NM_001406817.1:c.2264_2266delACC NP_001393746.1:p.Asp755_Pro756delinsAla inframe indel NM_001406818.1:c.3533_3535delACC NP_001393747.1:p.Asp1178_Pro1179delinsAla inframe indel NM_001406819.1:c.3533_3535delACC NP_001393748.1:p.Asp1178_Pro1179delinsAla inframe indel NM_001406820.1:c.3533_3535delACC NP_001393749.1:p.Asp1178_Pro1179delinsAla inframe indel NM_001406821.1:c.3533_3535delACC NP_001393750.1:p.Asp1178_Pro1179delinsAla inframe indel NM_001406822.1:c.3533_3535delACC NP_001393751.1:p.Asp1178_Pro1179delinsAla inframe indel NM_001406823.1:c.2924_2926delACC NP_001393752.1:p.Asp975_Pro976delinsAla inframe indel NM_001406824.1:c.3533_3535delACC NP_001393753.1:p.Asp1178_Pro1179delinsAla inframe indel NM_001406825.1:c.3533_3535delACC NP_001393754.1:p.Asp1178_Pro1179delinsAla inframe indel NM_001406826.1:c.3662_3664delACC NP_001393755.1:p.Asp1221_Pro1222delinsAla inframe indel NM_001406827.1:c.3533_3535delACC NP_001393756.1:p.Asp1178_Pro1179delinsAla inframe indel NM_001406828.1:c.3533_3535delACC NP_001393757.1:p.Asp1178_Pro1179delinsAla inframe indel NM_001406829.1:c.2924_2926delACC NP_001393758.1:p.Asp975_Pro976delinsAla inframe indel NM_001406830.1:c.3533_3535delACC NP_001393759.1:p.Asp1178_Pro1179delinsAla inframe indel NM_001406831.1:c.611_613delACC NP_001393760.1:p.Asp204_Pro205delinsAla inframe indel NM_001406832.1:c.677_679delACC NP_001393761.1:p.Asp226_Pro227delinsAla inframe indel NM_001407362.1:c.1775_1777delACC NP_001394291.1:p.Asp592_Pro593delinsAla inframe indel NR_176256.1:n.2760_2762delACC NR_176257.1:n.4091_4093delACC NR_176258.1:n.4020_4022delACC NR_176259.1:n.3919_3921delACC NR_176260.1:n.1864_1866delACC NR_176261.1:n.3801_3803delACC NC_000002.12:g.47806480_47806482del NC_000002.11:g.48033619_48033621del NG_007111.1:g.28334_28336del NG_008397.1:g.104194_104196del LRG_219:g.28334_28336del LRG_219t1:c.3830_3832del LRG_219p1:p.Asp1277_Pro1278delinsAla - Protein change
- T1273del
- Other names
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- Canonical SPDI
- NC_000002.12:47806479:ACC:
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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 |
9161 | 9479 | |
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. |
|---|---|---|---|---|
| Uncertain significance (1) |
criteria provided, single submitter
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Oct 5, 2020 | RCV002355401.2 |
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
(Oct 05, 2020)
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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: SCV002619835.2
First in ClinVar: Nov 29, 2022 Last updated: May 01, 2024 |
Comment:
The c.3830_3832delACC variant (also known as p.D1277_P1278delinsA) is located in coding exon 9 of the MSH6 gene. This variant results from an in-frame ACC deletion … (more)
The c.3830_3832delACC variant (also known as p.D1277_P1278delinsA) is located in coding exon 9 of the MSH6 gene. This variant results from an in-frame ACC deletion at nucleotide positions 3830 to 3832. The at codon 1277 is replaced by alanine , an amino acid with highly similar properties. This amino acid region is highly 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)
|
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.3830_3832delACC variant (also known as p.D1277_P1278delinsA) is located in coding exon 9 of the MSH6 gene. This variant results from an in-frame ACC deletion at nucleotide positions 3830 to 3832. The at codon 1277 is replaced by alanine , an amino acid with highly similar properties. This amino acid region is highly 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.