This variant is predicted to result in loss of protein function through nonsense-mediated or protein truncation. Loss of function is an established mechanism of disease. This variant is absent from large population databases, including the Genome Aggregation Database (http://gnomad.broadinstitute.org/).
ClinVar Genomic variation as it relates to human health
NM_001048174.2(MUTYH):c.516dup (p.Met173fs)
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.
Likely pathogenic
1
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_001048174.2(MUTYH):c.516dup (p.Met173fs)
Variation ID: 3070342 Accession: VCV003070342.1
- Type and length
-
Duplication, 1 bp
- Location
-
Cytogenetic: 1p34.1 1: 45332663-45332664 (GRCh38) [ NCBI UCSC ] 1: 45798335-45798336 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
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 Apr 15, 2023 - HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_001048174.2:c.516dup MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001041639.1:p.Met173fs frameshift NM_001128425.2:c.600dup MANE Plus Clinical Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001121897.1:p.Met201fs frameshift NM_001048171.2:c.516dup NP_001041636.2:p.Met173fs frameshift NM_001048172.2:c.519dup NP_001041637.1:p.Met174fs frameshift NM_001048173.2:c.516dup NP_001041638.1:p.Met173fs frameshift NM_001293190.2:c.561dup NP_001280119.1:p.Met188fs frameshift NM_001293191.2:c.549dup NP_001280120.1:p.Met184fs frameshift NM_001293192.2:c.240dup NP_001280121.1:p.Met81fs frameshift NM_001293195.2:c.516dup NP_001280124.1:p.Met173fs frameshift NM_001293196.2:c.240dup NP_001280125.1:p.Met81fs frameshift NM_001350650.2:c.171dup NP_001337579.1:p.Met58fs frameshift NM_001350651.2:c.171dup NP_001337580.1:p.Met58fs frameshift NM_001407069.1:c.549dup NP_001393998.1:p.Met184fs frameshift NM_001407070.1:c.516dup NP_001393999.1:p.Met173fs frameshift NM_001407071.1:c.519dup NP_001394000.1:p.Met174fs frameshift NM_001407072.1:c.516dup NP_001394001.1:p.Met173fs frameshift NM_001407073.1:c.516dup NP_001394002.1:p.Met173fs frameshift NM_001407075.1:c.432dup NP_001394004.1:p.Met145fs frameshift NM_001407077.1:c.549dup NP_001394006.1:p.Met184fs frameshift NM_001407078.1:c.519dup NP_001394007.1:p.Met174fs frameshift NM_001407079.1:c.477dup NP_001394008.1:p.Met160fs frameshift NM_001407080.1:c.474dup NP_001394009.1:p.Met159fs frameshift NM_001407081.1:c.516dup NP_001394010.1:p.Met173fs frameshift NM_001407082.1:c.171dup NP_001394011.1:p.Met58fs frameshift NM_001407083.1:c.558dup NP_001394012.1:p.Met187fs frameshift NM_001407085.1:c.558dup NP_001394014.1:p.Met187fs frameshift NM_001407086.1:c.519dup NP_001394015.1:p.Met174fs frameshift NM_001407087.1:c.537dup NP_001394016.1:p.Met180fs frameshift NM_001407088.1:c.516dup NP_001394017.1:p.Met173fs frameshift NM_001407089.1:c.516dup NP_001394018.1:p.Met173fs frameshift NM_001407091.1:c.240dup NP_001394020.1:p.Met81fs frameshift NM_012222.3:c.591dup NP_036354.1:p.Met198fs frameshift NR_146882.2:n.744dup non-coding transcript variant NR_146883.2:n.593dup non-coding transcript variant NR_176269.1:n.740dup non-coding transcript variant NR_176270.1:n.680dup NR_176271.1:n.603dup non-coding transcript variant NR_176272.1:n.667dup non-coding transcript variant NR_176273.1:n.625dup non-coding transcript variant NR_176274.1:n.680dup non-coding transcript variant NC_000001.11:g.45332664dup NC_000001.10:g.45798336dup NG_008189.1:g.12807dup LRG_220:g.12807dup LRG_220t1:c.600dup LRG_220p1:p.Met201Hisfs - Protein change
- M145fs, M159fs, M160fs, M173fs, M174fs, M180fs, M184fs, M187fs, M188fs, M198fs, M201fs, M58fs, M81fs
- Other names
- -
- Canonical SPDI
- NC_000001.11:45332663:G:GG
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
- -
-
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.
- -
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
- -
- 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. |
|||
| MUTYH | - | - |
GRCh38 GRCh37 |
2690 | 2846 | |
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
|
Apr 15, 2023 | RCV004011860.2 |
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
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. |
|
|---|---|---|---|---|---|
|
Likely Pathogenic
(Apr 15, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Familial adenomatous polyposis 2
(Autosomal recessive inheritance)
Affected status: unknown
Allele origin:
germline
|
All of Us Research Program, National Institutes of Health
Accession: SCV004830573.1
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)
|
Comment:
This variant is predicted to result in loss of protein function through nonsense-mediated or protein truncation. Loss of function is an established mechanism of disease. … (more)
This variant is predicted to result in loss of protein function through nonsense-mediated or protein truncation. Loss of function is an established mechanism of disease. This variant is absent from large population databases, including the Genome Aggregation Database (http://gnomad.broadinstitute.org/). (less)
Number of individuals with the variant: 1
Zygosity: Compound Heterozygote
|
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 predicted to result in loss of protein function through nonsense-mediated or protein truncation. Loss of function is an established mechanism of disease. This variant is absent from large population databases, including the Genome Aggregation Database (http://gnomad.broadinstitute.org/).
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 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.