This variant results in an in-frame deletion of five amino acids in the MUTYH protein. To our knowledge, functional studies have not been reported for this variant. 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). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
ClinVar Genomic variation as it relates to human health
NM_001048174.2(MUTYH):c.1205_1219del (p.Pro402_Thr406del)
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)
Help
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.
Uncertain significance
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.1205_1219del (p.Pro402_Thr406del)
Variation ID: 2773681 Accession: VCV002773681.1
- Type and length
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Deletion, 15 bp
- Location
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Cytogenetic: 1p34.1 1: 45331440-45331454 (GRCh38) [ NCBI UCSC ] 1: 45797112-45797126 (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 14, 2024 Feb 14, 2024 Mar 7, 2023 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_001048174.2:c.1205_1219del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001041639.1:p.Pro402_Thr406del inframe deletion NM_001128425.2:c.1289_1303del MANE Plus Clinical Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001121897.1:p.Pro430_Thr434del inframe deletion NM_001048171.2:c.1205_1219del NP_001041636.2:p.Pro402_Thr406del inframe deletion NM_001048172.2:c.1208_1222del NP_001041637.1:p.Pro403_Thr407del inframe deletion NM_001048173.2:c.1205_1219del NP_001041638.1:p.Pro402_Thr406del inframe deletion NM_001293190.2:c.1250_1264del NP_001280119.1:p.Pro417_Thr421del inframe deletion NM_001293191.2:c.1238_1252del NP_001280120.1:p.Pro413_Thr417del inframe deletion NM_001293192.2:c.929_943del NP_001280121.1:p.Pro310_Thr314del inframe deletion NM_001293195.2:c.1205_1219del NP_001280124.1:p.Pro402_Thr406del inframe deletion NM_001293196.2:c.929_943del NP_001280125.1:p.Pro310_Thr314del inframe deletion NM_001350650.2:c.860_874del NP_001337579.1:p.Pro287_Thr291del inframe deletion NM_001350651.2:c.860_874del NP_001337580.1:p.Pro287_Thr291del inframe deletion NM_001407069.1:c.1238_1252del NP_001393998.1:p.Pro413_Thr417del inframe deletion NM_001407070.1:c.1205_1219del NP_001393999.1:p.Pro402_Thr406del inframe deletion NM_001407071.1:c.1208_1222del NP_001394000.1:p.Pro403_Thr407del inframe deletion NM_001407072.1:c.1205_1219del NP_001394001.1:p.Pro402_Thr406del inframe deletion NM_001407073.1:c.1205_1219del NP_001394002.1:p.Pro402_Thr406del inframe deletion NM_001407075.1:c.1121_1135del NP_001394004.1:p.Pro374_Thr378del inframe deletion NM_001407077.1:c.1238_1252del NP_001394006.1:p.Pro413_Thr417del inframe deletion NM_001407078.1:c.1208_1222del NP_001394007.1:p.Pro403_Thr407del inframe deletion NM_001407079.1:c.1166_1180del NP_001394008.1:p.Pro389_Thr393del inframe deletion NM_001407080.1:c.1163_1177del NP_001394009.1:p.Pro388_Thr392del inframe deletion NM_001407081.1:c.1205_1219del NP_001394010.1:p.Pro402_Thr406del inframe deletion NM_001407082.1:c.860_874del NP_001394011.1:p.Pro287_Thr291del inframe deletion NM_001407083.1:c.1247_1261del NP_001394012.1:p.Pro416_Thr420del inframe deletion NM_001407085.1:c.1247_1261del NP_001394014.1:p.Pro416_Thr420del inframe deletion NM_001407086.1:c.1208_1222del NP_001394015.1:p.Pro403_Thr407del inframe deletion NM_001407087.1:c.1226_1240del NP_001394016.1:p.Pro409_Thr413del inframe deletion NM_001407088.1:c.1205_1219del NP_001394017.1:p.Pro402_Thr406del inframe deletion NM_001407089.1:c.1205_1219del NP_001394018.1:p.Pro402_Thr406del inframe deletion NM_001407091.1:c.929_943del NP_001394020.1:p.Pro310_Thr314del inframe deletion NM_012222.3:c.1280_1294del NP_036354.1:p.Pro427_Thr431del inframe deletion NR_146882.2:n.1433_1447del non-coding transcript variant NR_146883.2:n.1282_1296del non-coding transcript variant NR_176269.1:n.1429_1443del non-coding transcript variant NR_176270.1:n.1367_1381delGCCCCTCCCAGCCAC NR_176271.1:n.1292_1306del non-coding transcript variant NR_176272.1:n.1356_1370del non-coding transcript variant NR_176273.1:n.1314_1328del non-coding transcript variant NR_176274.1:n.1369_1383del non-coding transcript variant NC_000001.11:g.45331442_45331456del NC_000001.10:g.45797114_45797128del NG_008189.1:g.14017_14031del LRG_220:g.14017_14031del LRG_220t1:c.1287_1301del LRG_220p1:p.Pro430_Thr434del - Protein change
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- Other names
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- Canonical SPDI
- NC_000001.11:45331439:GCGTGGCTGGGAGGGGC:GC
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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. |
|---|---|---|---|---|
| Uncertain significance (1) |
criteria provided, single submitter
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Mar 7, 2023 | RCV003585654.1 |
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
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
Help
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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Uncertain significance
(Mar 07, 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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Color Diagnostics, LLC DBA Color Health
Accession: SCV004358546.1
First in ClinVar: Feb 14, 2024 Last updated: Feb 14, 2024 |
Comment:
This variant results in an in-frame deletion of five amino acids in the MUTYH protein. To our knowledge, functional studies have not been reported for … (more)
This variant results in an in-frame deletion of five amino acids in the MUTYH protein. To our knowledge, functional studies have not been reported for this variant. 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). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. (less)
|
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 results in an in-frame deletion of five amino acids in the MUTYH protein. To our knowledge, functional studies have not been reported for this variant. 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). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
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 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.