ClinVar Genomic variation as it relates to human health
NM_001048174.2(MUTYH):c.196dup (p.Thr66fs)
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.196dup (p.Thr66fs)
Variation ID: 2581334 Accession: VCV002581334.1
- Type and length
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Duplication, 1 bp
- Location
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Cytogenetic: 1p34.1 1: 45333480-45333481 (GRCh38) [ NCBI UCSC ] 1: 45799152-45799153 (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 Oct 7, 2023 Oct 7, 2023 Aug 24, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_001048174.2:c.196dup MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001041639.1:p.Thr66fs frameshift NM_001048171.2:c.196dup NP_001041636.2:p.Thr66fs frameshift NM_001048172.2:c.199dup NP_001041637.1:p.Thr67fs frameshift NM_001048173.2:c.196dup NP_001041638.1:p.Thr66fs frameshift NM_001128425.1:c.280dupA frameshift NM_001128425.2:c.280dup NP_001121897.1:p.Thr94fs frameshift NM_001293190.2:c.241dup NP_001280119.1:p.Thr81fs frameshift NM_001293191.2:c.229dup NP_001280120.1:p.Thr77fs frameshift NM_001293192.2:c.-81dup 5 prime UTR NM_001293195.2:c.196dup NP_001280124.1:p.Thr66fs frameshift NM_001293196.2:c.-81dup 5 prime UTR NM_001350650.2:c.-76dup 5 prime UTR NM_001350651.2:c.-76dup 5 prime UTR NM_001407069.1:c.271dup NP_001393998.1:p.Thr91fs frameshift NM_001407070.1:c.196dup NP_001393999.1:p.Thr66fs frameshift NM_001407071.1:c.199dup NP_001394000.1:p.Thr67fs frameshift NM_001407072.1:c.196dup NP_001394001.1:p.Thr66fs frameshift NM_001407073.1:c.238dup NP_001394002.1:p.Thr80fs frameshift NM_001407075.1:c.112dup NP_001394004.1:p.Thr38fs frameshift NM_001407077.1:c.229dup NP_001394006.1:p.Thr77fs frameshift NM_001407078.1:c.199dup NP_001394007.1:p.Thr67fs frameshift NM_001407079.1:c.199dup NP_001394008.1:p.Thr67fs frameshift NM_001407080.1:c.196dup NP_001394009.1:p.Thr66fs frameshift NM_001407081.1:c.196dup NP_001394010.1:p.Thr66fs frameshift NM_001407082.1:c.-76dup 5 prime UTR NM_001407083.1:c.238dup NP_001394012.1:p.Thr80fs frameshift NM_001407085.1:c.238dup NP_001394014.1:p.Thr80fs frameshift NM_001407086.1:c.199dup NP_001394015.1:p.Thr67fs frameshift NM_001407087.1:c.217dup NP_001394016.1:p.Thr73fs frameshift NM_001407088.1:c.196dup NP_001394017.1:p.Thr66fs frameshift NM_001407089.1:c.196dup NP_001394018.1:p.Thr66fs frameshift NM_001407091.1:c.-81dup 5 prime UTR NM_012222.3:c.271dup NP_036354.1:p.Thr91fs frameshift NR_146882.2:n.424dup non-coding transcript variant NR_146883.2:n.347dup non-coding transcript variant NR_176269.1:n.420dup non-coding transcript variant NR_176270.1:n.360dup NR_176271.1:n.283dup non-coding transcript variant NR_176272.1:n.347dup non-coding transcript variant NR_176273.1:n.347dup non-coding transcript variant NR_176274.1:n.360dup non-coding transcript variant NC_000001.11:g.45333481dup NC_000001.10:g.45799153dup NG_008189.1:g.11990dup LRG_220:g.11990dup LRG_220t1:c.280dup LRG_220p1:p.Thr94Asnfs - Protein change
- T38fs, T66fs, T67fs, T73fs, T77fs, T80fs, T81fs, T91fs, T94fs
- Other names
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- Canonical SPDI
- NC_000001.11:45333480:T:TT
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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
Help
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 |
2685 | 2841 |
Conditions - Germline
Condition
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The condition for this variant-condition (RCV) record in ClinVar. |
Classification
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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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Pathogenic (1) |
criteria provided, single submitter
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Aug 24, 2023 | RCV003331739.1 |
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
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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
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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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Pathogenic
(Aug 24, 2023)
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criteria provided, single submitter
Method: clinical testing
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Familial adenomatous polyposis 2
Affected status: unknown
Allele origin:
germline
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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV004039294.1
First in ClinVar: Oct 07, 2023 Last updated: Oct 07, 2023 |
Comment:
Variant summary: MUTYH c.280dupA (p.Thr94AsnfsX27) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein … (more)
Variant summary: MUTYH c.280dupA (p.Thr94AsnfsX27) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 251492 control chromosomes (gnomAD). To our knowledge, no occurrence of c.280dupA in individuals affected with MUTYH-Associated Polyposis and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic. (less)
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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 Oct 07, 2023
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.