ClinVar Genomic variation as it relates to human health
NM_001048174.2(MUTYH):c.1312del (p.Pro437_Val438insTer)
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.1312del (p.Pro437_Val438insTer)
Variation ID: 2104911 Accession: VCV002104911.2
- Type and length
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Deletion, 1 bp
- Location
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Cytogenetic: 1p34.1 1: 45331262 (GRCh38) [ NCBI UCSC ] 1: 45796934 (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 Feb 8, 2023 Feb 20, 2024 Jun 8, 2022 - HGVS
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Nucleotide Protein Molecular
consequenceNM_001048174.2:c.1312del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001041639.1:p.Pro437_Val438insTer nonsense NM_001128425.2:c.1396del MANE Plus Clinical Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001121897.1:p.Pro465_Val466insTer nonsense NM_001048171.2:c.1312del NP_001041636.2:p.Pro437_Val438insTer nonsense NM_001048172.2:c.1315del NP_001041637.1:p.Pro438_Val439insTer nonsense NM_001048173.2:c.1312del NP_001041638.1:p.Pro437_Val438insTer nonsense NM_001293190.2:c.1357del NP_001280119.1:p.Pro452_Val453insTer nonsense NM_001293191.2:c.1345del NP_001280120.1:p.Pro448_Val449insTer nonsense NM_001293192.2:c.1036del NP_001280121.1:p.Pro345_Val346insTer nonsense NM_001293195.2:c.1312del NP_001280124.1:p.Pro437_Val438insTer nonsense NM_001293196.2:c.1036del NP_001280125.1:p.Pro345_Val346insTer nonsense NM_001350650.2:c.967del NP_001337579.1:p.Pro322_Val323insTer nonsense NM_001350651.2:c.967del NP_001337580.1:p.Pro322_Val323insTer nonsense NM_001407069.1:c.1345delG NP_001393998.1:p.Val449Terfs frameshift nonsense NM_001407070.1:c.1312delG NP_001393999.1:p.Val438Terfs frameshift nonsense NM_001407071.1:c.1315delG NP_001394000.1:p.Val439Terfs frameshift nonsense NM_001407072.1:c.1312delG NP_001394001.1:p.Val438Terfs frameshift nonsense NM_001407073.1:c.1312delG NP_001394002.1:p.Val438Terfs frameshift nonsense NM_001407075.1:c.1228delG NP_001394004.1:p.Val410Terfs frameshift nonsense NM_001407077.1:c.1345delG NP_001394006.1:p.Val449Terfs frameshift nonsense NM_001407078.1:c.1315delG NP_001394007.1:p.Val439Terfs frameshift nonsense NM_001407079.1:c.1273delG NP_001394008.1:p.Val425Terfs frameshift nonsense NM_001407080.1:c.1270delG NP_001394009.1:p.Val424Terfs frameshift nonsense NM_001407081.1:c.1312delG NP_001394010.1:p.Val438Terfs frameshift nonsense NM_001407082.1:c.967delG NP_001394011.1:p.Val323Terfs frameshift nonsense NM_001407083.1:c.1354delG NP_001394012.1:p.Val452Terfs frameshift nonsense NM_001407085.1:c.1354delG NP_001394014.1:p.Val452Terfs frameshift nonsense NM_001407086.1:c.1315delG NP_001394015.1:p.Val439Terfs frameshift nonsense NM_001407087.1:c.1333delG NP_001394016.1:p.Val445Terfs frameshift nonsense NM_001407088.1:c.1312delG NP_001394017.1:p.Val438Terfs frameshift nonsense NM_001407089.1:c.1312delG NP_001394018.1:p.Val438Terfs frameshift nonsense NM_001407091.1:c.1036delG NP_001394020.1:p.Val346Terfs frameshift nonsense NM_012222.3:c.1387del NP_036354.1:p.Pro462_Val463insTer nonsense NR_146882.2:n.1540del non-coding transcript variant NR_146883.2:n.1389del non-coding transcript variant NR_176269.1:n.1536delG NR_176270.1:n.1476delG NR_176271.1:n.1399delG NR_176272.1:n.1463delG NR_176273.1:n.1421delG NR_176274.1:n.1476delG NC_000001.11:g.45331262del NC_000001.10:g.45796934del NG_008189.1:g.14209del LRG_220:g.14209del LRG_220t1:c.1396del LRG_220p1:p.Val466Terfs - Protein change
- Other names
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- Canonical SPDI
- NC_000001.11:45331261:C:
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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
Help
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 |
2566 | 2714 |
Conditions - Germline
Condition
Help
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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Jun 8, 2022 | RCV003041806.2 |
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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Pathogenic
(Jun 08, 2022)
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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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Invitae
Accession: SCV003316154.2
First in ClinVar: Feb 07, 2023 Last updated: Feb 20, 2024 |
Comment:
For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with MUTYH-related conditions. … (more)
For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with MUTYH-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Val466*) in the MUTYH gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MUTYH are known to be pathogenic (PMID: 18534194, 20663686). (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
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 20, 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.