ClinVar Genomic variation as it relates to human health
NM_001048174.2(MUTYH):c.1216A>C (p.Thr406Pro)
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.1216A>C (p.Thr406Pro)
Variation ID: 2612158 Accession: VCV002612158.2
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 1p34.1 1: 45331443 (GRCh38) [ NCBI UCSC ] 1: 45797115 (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 28, 2023 May 1, 2024 Sep 1, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_001048174.2:c.1216A>C MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001041639.1:p.Thr406Pro missense NM_001128425.2:c.1300A>C MANE Plus Clinical Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001121897.1:p.Thr434Pro missense NM_001048171.2:c.1216A>C NP_001041636.2:p.Thr406Pro missense NM_001048172.2:c.1219A>C NP_001041637.1:p.Thr407Pro missense NM_001048173.2:c.1216A>C NP_001041638.1:p.Thr406Pro missense NM_001293190.2:c.1261A>C NP_001280119.1:p.Thr421Pro missense NM_001293191.2:c.1249A>C NP_001280120.1:p.Thr417Pro missense NM_001293192.2:c.940A>C NP_001280121.1:p.Thr314Pro missense NM_001293195.2:c.1216A>C NP_001280124.1:p.Thr406Pro missense NM_001293196.2:c.940A>C NP_001280125.1:p.Thr314Pro missense NM_001350650.2:c.871A>C NP_001337579.1:p.Thr291Pro missense NM_001350651.2:c.871A>C NP_001337580.1:p.Thr291Pro missense NM_001407069.1:c.1249A>C NP_001393998.1:p.Thr417Pro missense NM_001407070.1:c.1216A>C NP_001393999.1:p.Thr406Pro missense NM_001407071.1:c.1219A>C NP_001394000.1:p.Thr407Pro missense NM_001407072.1:c.1216A>C NP_001394001.1:p.Thr406Pro missense NM_001407073.1:c.1216A>C NP_001394002.1:p.Thr406Pro missense NM_001407075.1:c.1132A>C NP_001394004.1:p.Thr378Pro missense NM_001407077.1:c.1249A>C NP_001394006.1:p.Thr417Pro missense NM_001407078.1:c.1219A>C NP_001394007.1:p.Thr407Pro missense NM_001407079.1:c.1177A>C NP_001394008.1:p.Thr393Pro missense NM_001407080.1:c.1174A>C NP_001394009.1:p.Thr392Pro missense NM_001407081.1:c.1216A>C NP_001394010.1:p.Thr406Pro missense NM_001407082.1:c.871A>C NP_001394011.1:p.Thr291Pro missense NM_001407083.1:c.1258A>C NP_001394012.1:p.Thr420Pro missense NM_001407085.1:c.1258A>C NP_001394014.1:p.Thr420Pro missense NM_001407086.1:c.1219A>C NP_001394015.1:p.Thr407Pro missense NM_001407087.1:c.1237A>C NP_001394016.1:p.Thr413Pro missense NM_001407088.1:c.1216A>C NP_001394017.1:p.Thr406Pro missense NM_001407089.1:c.1216A>C NP_001394018.1:p.Thr406Pro missense NM_001407091.1:c.940A>C NP_001394020.1:p.Thr314Pro missense NM_012222.3:c.1291A>C NP_036354.1:p.Thr431Pro missense NR_146882.2:n.1444A>C non-coding transcript variant NR_146883.2:n.1293A>C non-coding transcript variant NR_176269.1:n.1440A>C non-coding transcript variant NR_176270.1:n.1380A>C NR_176271.1:n.1303A>C non-coding transcript variant NR_176272.1:n.1367A>C non-coding transcript variant NR_176273.1:n.1325A>C non-coding transcript variant NR_176274.1:n.1380A>C non-coding transcript variant NC_000001.11:g.45331443T>G NC_000001.10:g.45797115T>G NG_008189.1:g.14028A>C LRG_220:g.14028A>C LRG_220t1:c.1300A>C LRG_220p1:p.Thr434Pro - Protein change
- T291P, T392P, T393P, T406P, T407P, T421P, T314P, T413P, T420P, T378P, T417P, T431P, T434P
- Other names
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- Canonical SPDI
- NC_000001.11:45331442:T:G
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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 |
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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Uncertain significance (1) |
criteria provided, single submitter
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Sep 1, 2023 | RCV003369523.2 |
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
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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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Uncertain significance
(Sep 01, 2023)
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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: SCV004082589.2
First in ClinVar: Oct 28, 2023 Last updated: May 01, 2024 |
Comment:
The p.T434P variant (also known as c.1300A>C), located in coding exon 13 of the MUTYH gene, results from an A to C substitution at nucleotide … (more)
The p.T434P variant (also known as c.1300A>C), located in coding exon 13 of the MUTYH gene, results from an A to C substitution at nucleotide position 1300. The threonine at codon 434 is replaced by proline, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. (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 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.