Common in Spanish, Brazilian, and French populations
ClinVar Genomic variation as it relates to human health
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- Interpretation:
-
Pathogenic
- Review status:
- no assertion criteria provided
- Submissions:
- 2
- First in ClinVar:
- Apr 27, 2015
- Most recent Submission:
- Oct 1, 2022
- Last evaluated:
- Sep 1, 2011
- Accession:
- VCV000030441.5
- Variation ID:
- 30441
- Description:
- 4.3kb indel
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NM_001128425.1(MUTYH):c.348+33_*210delinsTA
- Allele ID
- 39398
- Variant type
- Indel
- Variant length
- 4,285 bp
- Cytogenetic location
- 1p34.1
- Genomic location
- 1: 45329096-45333380 (GRCh38) GRCh38 UCSC
- 1: 45794768-45799052 (GRCh37) GRCh37 UCSC
- HGVS
- ... more HGVS ... less HGVS
- Protein change
- -
- Other names
- c.348+33_*210delinsTA
- EX3-16DEL
- Canonical SPDI
- -
- Functional consequence
- -
- Global minor allele frequency (GMAF)
- -
- Allele frequency
- -
- Links
- ClinGen: CA259818
- dbVar: nssv7487149
- dbVar: nsv1197538
- OMIM: 604933.0009
- VarSome
- Comment on variant
- NCBI staff reviewed the sequence information reported in PubMed 21815886 Fig. 1d to determine the location of this allele on the current reference sequence.
- Genomic deletion in MUTYH starting in intron 3 and extending to the 3'-UTR, replaced by an insertion of the dinucleotide TA.
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Aggregate interpretations per condition
| Interpreted condition | Interpretation | Number of submissions | Review status | Last evaluated | Variation/condition record |
|---|---|---|---|---|---|
| Pathogenic | 2 | no assertion criteria provided | Sep 1, 2011 | RCV000023394.9 |
Submitted interpretations and evidence
Help| Interpretation (Last evaluated) |
Review status (Assertion criteria) |
Condition (Inheritance) |
Submitter | More information | |
|---|---|---|---|---|---|
|
Pathogenic
(Sep 01, 2011)
|
no assertion criteria provided
Method: literature only
|
FAMILIAL ADENOMATOUS POLYPOSIS 2
Affected status: not provided
Allele origin:
germline
|
OMIM
Accession: SCV000044685.3
First in ClinVar: Apr 04, 2013 Last updated: Apr 27, 2015 |
Comment on evidence:
For discussion of the rearrangement of the MUTYH gene resulting in the deletion of exons 3 to 16 that was found in a patient with … (more)
For discussion of the rearrangement of the MUTYH gene resulting in the deletion of exons 3 to 16 that was found in a patient with multiple colorectal adenomas (FAP2; 608456) by Rouleau et al. (2011), see 604933.0002. (less)
|
|
|
not provided
(-)
|
no assertion provided
Method: literature only
|
Familial adenomatous polyposis 2
Affected status: unknown
Allele origin:
germline
|
GeneReviews
Accession: SCV000246170.3
First in ClinVar: Sep 29, 2015 Last updated: Oct 01, 2022 |
Comment:
Common in Spanish, Brazilian, and French populations
|
Functional evidence
Help| 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 this variant
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| MUTYH Polyposis. | Adam MP | - | 2021 | PMID: 23035301 |
| Prevalence of germline MUTYH mutations among Lynch-like syndrome patients. | Castillejo A | European journal of cancer (Oxford, England : 1990) | 2014 | PMID: 24953332 |
| Breakpoint characterization of a novel large intragenic deletion of MUTYH detected in a MAP patient: case report. | Torrezan GT | BMC medical genetics | 2011 | PMID: 21962078 |
| First large rearrangement in the MUTYH gene and attenuated familial adenomatous polyposis syndrome. | Rouleau E | Clinical genetics | 2011 | PMID: 21815886 |
Record last updated Mar 26, 2023