ClinVar Genomic variation as it relates to human health
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- Interpretation:
-
Likely benign
- Review status:
- criteria provided, single submitter
- Submissions:
- 2
- First in ClinVar:
- Dec 17, 2019
- Most recent Submission:
- May 16, 2022
- Last evaluated:
- Dec 13, 2020
- Accession:
- VCV000754347.5
- Variation ID:
- 754347
- Description:
- single nucleotide variant
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NM_001048174.2(MUTYH):c.704+7T>C
- Allele ID
- 774517
- Variant type
- single nucleotide variant
- Variant length
- 1 bp
- Cytogenetic location
- 1p34.1
- Genomic location
- 1: 45332384 (GRCh38) GRCh38 UCSC
- 1: 45798056 (GRCh37) GRCh37 UCSC
- HGVS
- ... more HGVS ... less HGVS
- Protein change
- -
- Other names
- -
- Canonical SPDI
- NC_000001.11:45332383:A:G
- Functional consequence
- -
- Global minor allele frequency (GMAF)
- -
- Allele frequency
- -
- Links
- dbSNP: rs369052315
- VarSome
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Aggregate interpretations per condition
| Interpreted condition | Interpretation | Number of submissions | Review status | Last evaluated | Variation/condition record |
|---|---|---|---|---|---|
| Likely benign | 1 | criteria provided, single submitter | Aug 7, 2018 | RCV000931664.3 | |
| Likely benign | 1 | criteria provided, single submitter | Dec 13, 2020 | RCV001392271.4 |
Submitted interpretations and evidence
Help| Interpretation (Last evaluated) |
Review status (Assertion criteria) |
Condition (Inheritance) |
Submitter | More information | |
|---|---|---|---|---|---|
|
Likely benign
(Aug 07, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
Invitae
Accession: SCV001077335.1
First in ClinVar: Dec 17, 2019 Last updated: Dec 17, 2019 |
|
|
|
Likely benign
(Dec 13, 2020)
|
criteria provided, single submitter
Method: clinical testing
|
Familial adenomatous polyposis 2
Affected status: unknown
Allele origin:
germline
|
Invitae
Accession: SCV001593913.2
First in ClinVar: May 16, 2021 Last updated: May 16, 2022 |
|
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| There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar. |
Text-mined citations for rs369052315...
HelpThese citations are identified by LitVar using
the rs number, so they may include citations for more than one variant
at this location. Please review the LitVar results carefully for your
variant of interest.
Record last updated Nov 05, 2022