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NM_001048174.2(MUTYH):c.704+7T>C

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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
Nucleotide Protein Molecular
consequence
NM_001048174.2:c.704+7T>C MANE Select
NM_001048171.2:c.704+7T>C
NM_001048172.2:c.707+7T>C
... more 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
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MUTYH - - GRCh38
GRCh37
2114 2237

Submitted interpretations and evidence

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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

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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

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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...

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These 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