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NM_001739.2(CA5A):c.819G>A (p.Glu273=)

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Interpretation:
Likely benign​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
May 18, 2019
Accession:
VCV001117820.1
Variation ID:
1117820
Description:
single nucleotide variant
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NM_001739.2(CA5A):c.819G>A (p.Glu273=)

Allele ID
1104312
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16q24.2
Genomic location
16: 87888228 (GRCh38) GRCh38 UCSC
16: 87921834 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.87888228C>T
NC_000016.9:g.87921834C>T
NM_001739.2:c.819G>A MANE Select NP_001730.1:p.Glu273= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000016.10:87888227:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
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 May 18, 2019 RCV001446726.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CA5A - - GRCh38
GRCh37
54 113

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(May 18, 2019)
criteria provided, single submitter
Method: clinical testing
Carbonic anhydrase VA deficiency, hyperammonemia due to
Allele origin: germline
Invitae
Accession: SCV001649778.1
Submitted: (Jan 07, 2021)
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.

Record last updated May 26, 2021