ClinVar Genomic variation as it relates to human health
NM_001048174.2(MUTYH):c.514_515insTCT (p.His172delinsLeuTyr)
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_001048174.2(MUTYH):c.514_515insTCT (p.His172delinsLeuTyr)
Variation ID: 3070340 Accession: VCV003070340.1
- Type and length
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Insertion, 3 bp
- Location
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Cytogenetic: 1p34.1 1: 45332665-45332666 (GRCh38) [ NCBI UCSC ] 1: 45798337-45798338 (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 Apr 20, 2024 Apr 20, 2024 Apr 15, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_001048174.2:c.514_515insTCT MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001041639.1:p.His172delinsLeuTyr inframe indel NM_001128425.2:c.598_599insTCT MANE Plus Clinical Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001121897.1:p.His200delinsLeuTyr inframe indel NM_001048171.2:c.514_515insTCT NP_001041636.2:p.His172delinsLeuTyr inframe indel NM_001048172.2:c.517_518insTCT NP_001041637.1:p.His173delinsLeuTyr inframe indel NM_001048173.2:c.514_515insTCT NP_001041638.1:p.His172delinsLeuTyr inframe indel NM_001293190.2:c.559_560insTCT NP_001280119.1:p.His187delinsLeuTyr inframe indel NM_001293191.2:c.547_548insTCT NP_001280120.1:p.His183delinsLeuTyr inframe indel NM_001293192.2:c.238_239insTCT NP_001280121.1:p.His80delinsLeuTyr inframe indel NM_001293195.2:c.514_515insTCT NP_001280124.1:p.His172delinsLeuTyr inframe indel NM_001293196.2:c.238_239insTCT NP_001280125.1:p.His80delinsLeuTyr inframe indel NM_001350650.2:c.169_170insTCT NP_001337579.1:p.His57delinsLeuTyr inframe indel NM_001350651.2:c.169_170insTCT NP_001337580.1:p.His57delinsLeuTyr inframe indel NM_001407069.1:c.547_548insTCT NP_001393998.1:p.His183delinsLeuTyr inframe indel NM_001407070.1:c.514_515insTCT NP_001393999.1:p.His172delinsLeuTyr inframe indel NM_001407071.1:c.517_518insTCT NP_001394000.1:p.His173delinsLeuTyr inframe indel NM_001407072.1:c.514_515insTCT NP_001394001.1:p.His172delinsLeuTyr inframe indel NM_001407073.1:c.514_515insTCT NP_001394002.1:p.His172delinsLeuTyr inframe indel NM_001407075.1:c.430_431insTCT NP_001394004.1:p.His144delinsLeuTyr inframe indel NM_001407077.1:c.547_548insTCT NP_001394006.1:p.His183delinsLeuTyr inframe indel NM_001407078.1:c.517_518insTCT NP_001394007.1:p.His173delinsLeuTyr inframe indel NM_001407079.1:c.475_476insTCT NP_001394008.1:p.His159delinsLeuTyr inframe indel NM_001407080.1:c.472_473insTCT NP_001394009.1:p.His158delinsLeuTyr inframe indel NM_001407081.1:c.514_515insTCT NP_001394010.1:p.His172delinsLeuTyr inframe indel NM_001407082.1:c.169_170insTCT NP_001394011.1:p.His57delinsLeuTyr inframe indel NM_001407083.1:c.556_557insTCT NP_001394012.1:p.His186delinsLeuTyr inframe indel NM_001407085.1:c.556_557insTCT NP_001394014.1:p.His186delinsLeuTyr inframe indel NM_001407086.1:c.517_518insTCT NP_001394015.1:p.His173delinsLeuTyr inframe indel NM_001407087.1:c.535_536insTCT NP_001394016.1:p.His179delinsLeuTyr inframe indel NM_001407088.1:c.514_515insTCT NP_001394017.1:p.His172delinsLeuTyr inframe indel NM_001407089.1:c.514_515insTCT NP_001394018.1:p.His172delinsLeuTyr inframe indel NM_001407091.1:c.238_239insTCT NP_001394020.1:p.His80delinsLeuTyr inframe indel NM_012222.3:c.589_590insTCT NP_036354.1:p.His197delinsLeuTyr inframe indel NR_146882.2:n.742_743insTCT non-coding transcript variant NR_146883.2:n.591_592insTCT non-coding transcript variant NR_176269.1:n.738_739insTCT non-coding transcript variant NR_176270.1:n.678_679insTCT NR_176271.1:n.601_602insTCT non-coding transcript variant NR_176272.1:n.665_666insTCT non-coding transcript variant NR_176273.1:n.623_624insTCT non-coding transcript variant NR_176274.1:n.678_679insTCT non-coding transcript variant NC_000001.11:g.45332665_45332666insAGA NC_000001.10:g.45798337_45798338insAGA NG_008189.1:g.12805_12806insTCT LRG_220:g.12805_12806insTCT LRG_220t1:c.598_599insTCT LRG_220p1:p.His200delinsLeuTyr - Protein change
- Other names
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- Canonical SPDI
- NC_000001.11:45332665::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
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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 | ||
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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
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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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MUTYH | - | - |
GRCh38 GRCh37 |
2644 | 2797 |
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. |
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Uncertain significance (1) |
criteria provided, single submitter
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Apr 15, 2023 | RCV004011858.2 |
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
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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
(Apr 15, 2023)
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criteria provided, single submitter
Method: clinical testing
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Familial adenomatous polyposis 2
(Autosomal recessive inheritance)
Affected status: unknown
Allele origin:
germline
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All of Us Research Program, National Institutes of Health
Accession: SCV004830570.1
First in ClinVar: Apr 20, 2024 Last updated: Apr 20, 2024
Comment:
This study involves interpretation of variants in research participants for the purpose of population health screening. Participant phenotype was not available at the time of … (more)
This study involves interpretation of variants in research participants for the purpose of population health screening. Participant phenotype was not available at the time of variant classification. Additional details can be found in publication PMID: 35346344, PMCID: PMC8962531 (less)
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Number of individuals with the variant: 1
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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
HelpThere 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 08, 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.