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NM_213599.3(ANO5):c.758A>C (p.His253Pro)

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Interpretation:
Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Nov 21, 2016)
Accession:
VCV000291313.1
Variation ID:
291313
Description:
single nucleotide variant
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NM_213599.3(ANO5):c.758A>C (p.His253Pro)

Allele ID
275548
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11p14.3
Genomic location
11: 22236272 (GRCh38) GRCh38 UCSC
11: 22257818 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.22236272A>C
NC_000011.9:g.22257818A>C
NM_213599.3:c.758A>C MANE Select NP_998764.1:p.His253Pro missense
... more HGVS
Protein change
H253P, H252P
Other names
-
Canonical SPDI
NC_000011.10:22236271:A:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA10607100
dbSNP: rs886044915
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 no assertion criteria provided - RCV000393148.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ANO5 - - GRCh38
GRCh37
738 767

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(-)
no assertion criteria provided
Method: clinical testing
Elevated serum creatine phosphokinase
Allele origin: unknown
Institute of Human Genetics,University of Wuerzburg
Accession: SCV000346036.1
Submitted: (Nov 21, 2016)
Evidence details

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 rs886044915...

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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 13, 2020