ClinVar Genomic variation as it relates to human health
NM_001048174.2(MUTYH):c.1321_1328del (p.Val441fs)
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.1321_1328del (p.Val441fs)
Variation ID: 3073240 Accession: VCV003073240.1
- Type and length
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Deletion, 8 bp
- Location
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Cytogenetic: 1p34.1 1: 45331246-45331253 (GRCh38) [ NCBI UCSC ] 1: 45796918-45796925 (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 Aug 28, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_001048174.2:c.1321_1328del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001041639.1:p.Val441fs frameshift NM_001128425.2:c.1405_1412del MANE Plus Clinical Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001121897.1:p.Val469fs frameshift NM_001048171.2:c.1321_1328del NP_001041636.2:p.Val441fs frameshift NM_001048172.2:c.1324_1331del NP_001041637.1:p.Val442fs frameshift NM_001048173.2:c.1321_1328del NP_001041638.1:p.Val441fs frameshift NM_001293190.2:c.1366_1373del NP_001280119.1:p.Val456fs frameshift NM_001293191.2:c.1354_1361del NP_001280120.1:p.Val452fs frameshift NM_001293192.2:c.1045_1052del NP_001280121.1:p.Val349fs frameshift NM_001293195.2:c.1321_1328del NP_001280124.1:p.Val441fs frameshift NM_001293196.2:c.1045_1052del NP_001280125.1:p.Val349fs frameshift NM_001350650.2:c.976_983del NP_001337579.1:p.Val326fs frameshift NM_001350651.2:c.976_983del NP_001337580.1:p.Val326fs frameshift NM_001407069.1:c.1354_1361del NP_001393998.1:p.Val452fs frameshift NM_001407070.1:c.1321_1328del NP_001393999.1:p.Val441fs frameshift NM_001407071.1:c.1324_1331del NP_001394000.1:p.Val442fs frameshift NM_001407072.1:c.1321_1328del NP_001394001.1:p.Val441fs frameshift NM_001407073.1:c.1321_1328del NP_001394002.1:p.Val441fs frameshift NM_001407075.1:c.1237_1244del NP_001394004.1:p.Val413fs frameshift NM_001407077.1:c.1354_1361del NP_001394006.1:p.Val452fs frameshift NM_001407078.1:c.1324_1331del NP_001394007.1:p.Val442fs frameshift NM_001407079.1:c.1282_1289del NP_001394008.1:p.Val428fs frameshift NM_001407080.1:c.1279_1286del NP_001394009.1:p.Val427fs frameshift NM_001407081.1:c.1321_1328del NP_001394010.1:p.Val441fs frameshift NM_001407082.1:c.976_983del NP_001394011.1:p.Val326fs frameshift NM_001407083.1:c.1363_1370del NP_001394012.1:p.Val455fs frameshift NM_001407085.1:c.1363_1370del NP_001394014.1:p.Val455fs frameshift NM_001407086.1:c.1324_1331del NP_001394015.1:p.Val442fs frameshift NM_001407087.1:c.1342_1349del NP_001394016.1:p.Val448fs frameshift NM_001407088.1:c.1321_1328del NP_001394017.1:p.Val441fs frameshift NM_001407089.1:c.1321_1328del NP_001394018.1:p.Val441fs frameshift NM_001407091.1:c.1045_1052del NP_001394020.1:p.Val349fs frameshift NM_012222.3:c.1396_1403del NP_036354.1:p.Val466fs frameshift NR_146882.2:n.1549_1556del non-coding transcript variant NR_146883.2:n.1398_1405del non-coding transcript variant NR_176269.1:n.1545_1552del non-coding transcript variant NR_176270.1:n.1479_1486delACCACCGT NR_176271.1:n.1408_1415del non-coding transcript variant NR_176272.1:n.1472_1479del non-coding transcript variant NR_176273.1:n.1430_1437del non-coding transcript variant NR_176274.1:n.1485_1492del non-coding transcript variant NC_000001.11:g.45331252_45331259del NC_000001.10:g.45796924_45796931del NG_008189.1:g.14218_14225del LRG_220:g.14218_14225del LRG_220t1:c.1399_1406del LRG_220p1:p.Val469Argfs - Protein change
- V326fs, V349fs, V413fs, V427fs, V428fs, V441fs, V442fs, V448fs, V452fs, V455fs, V456fs, V466fs, V469fs
- Other names
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- Canonical SPDI
- NC_000001.11:45331245:GGTGGTACGGTGGT:GGTGGT
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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
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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 28, 2023 | RCV004015254.2 |
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
(Aug 28, 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: SCV004828062.1
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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Comment:
This variant deletes 8 nucleotides in exon 14 of the MUTYH gene, creating a frameshift and premature translation stop signal. This variant is expected to … (more)
This variant deletes 8 nucleotides in exon 14 of the MUTYH gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, this variant has not been reported in individuals affected with MUTYH-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of MUTYH function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic. (less)
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.