This variant is considered likely pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
ClinVar Genomic variation as it relates to human health
NM_001048174.2(MUTYH):c.1283_1284del (p.Tyr428fs)
Germline
Classification
Help
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.
(1)
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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.
Likely pathogenic
1
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_001048174.2(MUTYH):c.1283_1284del (p.Tyr428fs)
Variation ID: 2583841 Accession: VCV002583841.2
- Type and length
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Microsatellite, 2 bp
- Location
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Cytogenetic: 1p34.1 1: 45331290-45331291 (GRCh38) [ NCBI UCSC ] 1: 45796962-45796963 (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 21, 2023 Oct 28, 2023 Jun 9, 2023 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_001048174.2:c.1283_1284del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001041639.1:p.Tyr428fs frameshift NM_001128425.2:c.1367_1368del MANE Plus Clinical Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001121897.1:p.Tyr456fs frameshift NM_001048171.2:c.1283_1284del NP_001041636.2:p.Tyr428fs frameshift NM_001048172.2:c.1286_1287del NP_001041637.1:p.Tyr429fs frameshift NM_001048173.2:c.1283_1284del NP_001041638.1:p.Tyr428fs frameshift NM_001293190.2:c.1328_1329del NP_001280119.1:p.Tyr443fs frameshift NM_001293191.2:c.1316_1317del NP_001280120.1:p.Tyr439fs frameshift NM_001293192.2:c.1007_1008del NP_001280121.1:p.Tyr336fs frameshift NM_001293195.2:c.1283_1284del NP_001280124.1:p.Tyr428fs frameshift NM_001293196.2:c.1007_1008del NP_001280125.1:p.Tyr336fs frameshift NM_001350650.2:c.938_939del NP_001337579.1:p.Tyr313fs frameshift NM_001350651.2:c.938_939del NP_001337580.1:p.Tyr313fs frameshift NM_001407069.1:c.1316_1317del NP_001393998.1:p.Tyr439fs frameshift NM_001407070.1:c.1283_1284del NP_001393999.1:p.Tyr428fs frameshift NM_001407071.1:c.1286_1287del NP_001394000.1:p.Tyr429fs frameshift NM_001407072.1:c.1283_1284del NP_001394001.1:p.Tyr428fs frameshift NM_001407073.1:c.1283_1284del NP_001394002.1:p.Tyr428fs frameshift NM_001407075.1:c.1199_1200del NP_001394004.1:p.Tyr400fs frameshift NM_001407077.1:c.1316_1317del NP_001394006.1:p.Tyr439fs frameshift NM_001407078.1:c.1286_1287del NP_001394007.1:p.Tyr429fs frameshift NM_001407079.1:c.1244_1245del NP_001394008.1:p.Tyr415fs frameshift NM_001407080.1:c.1241_1242del NP_001394009.1:p.Tyr414fs frameshift NM_001407081.1:c.1283_1284del NP_001394010.1:p.Tyr428fs frameshift NM_001407082.1:c.938_939del NP_001394011.1:p.Tyr313fs frameshift NM_001407083.1:c.1325_1326del NP_001394012.1:p.Tyr442fs frameshift NM_001407085.1:c.1325_1326del NP_001394014.1:p.Tyr442fs frameshift NM_001407086.1:c.1286_1287del NP_001394015.1:p.Tyr429fs frameshift NM_001407087.1:c.1304_1305del NP_001394016.1:p.Tyr435fs frameshift NM_001407088.1:c.1283_1284del NP_001394017.1:p.Tyr428fs frameshift NM_001407089.1:c.1283_1284del NP_001394018.1:p.Tyr428fs frameshift NM_001407091.1:c.1007_1008del NP_001394020.1:p.Tyr336fs frameshift NM_012222.3:c.1358_1359del NP_036354.1:p.Tyr453fs frameshift NR_146882.2:n.1509AT[1] non-coding transcript variant NR_146883.2:n.1358AT[1] non-coding transcript variant NR_176269.1:n.1505AT[1] non-coding transcript variant NR_176270.1:n.1444_1445TA[1] NR_176271.1:n.1368AT[1] non-coding transcript variant NR_176272.1:n.1432AT[1] non-coding transcript variant NR_176273.1:n.1390AT[1] non-coding transcript variant NR_176274.1:n.1445AT[1] non-coding transcript variant NC_000001.11:g.45331291TA[1] NC_000001.10:g.45796963TA[1] NG_008189.1:g.14178AT[1] LRG_220:g.14178AT[1] LRG_220t1:c.1364_1365TA[1] LRG_220p1:p.Tyr456Trpfs - Protein change
- Y313fs, Y336fs, Y400fs, Y414fs, Y415fs, Y428fs, Y429fs, Y435fs, Y439fs, Y442fs, Y443fs, Y453fs, Y456fs
- Other names
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- Canonical SPDI
- NC_000001.11:45331289:ATATA:ATA
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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
Help
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 | ||
|---|---|---|---|---|---|---|
| HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
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
Help
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 |
2688 | 2844 | |
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
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
|---|---|---|---|---|
| Likely pathogenic (1) |
criteria provided, single submitter
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Jun 9, 2023 | RCV003334763.2 |
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
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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
Help
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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Likely pathogenic
(Jun 09, 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:
unknown
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Myriad Genetics, Inc.
Accession: SCV004043917.2
First in ClinVar: Oct 21, 2023 Last updated: Oct 28, 2023 |
Comment:
This variant is considered likely pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
|
Comment:
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. |
Comment:
This variant is considered likely pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
Citations for germline classification of this variant
Help| There 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 28, 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.