Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_001193333.2(CORO1A):c.222G>A (p.Ala74=)

Help
Interpretation:
Likely benign​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Apr 2, 2018)
Last evaluated:
Dec 4, 2017
Accession:
VCV000541423.1
Variation ID:
541423
Description:
single nucleotide variant
Help

NM_001193333.2(CORO1A):c.222G>A (p.Ala74=)

Allele ID
530415
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16p11.2
Genomic location
16: 30186621 (GRCh38) GRCh38 UCSC
16: 30197942 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.30186621G>A
NC_000016.9:g.30197942G>A
NM_001193333.2:c.222G>A NP_001180262.1:p.Ala74= synonymous
... more HGVS
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00000
Trans-Omics for Precision Medicine (TOPMed) 0.00002
The Genome Aggregation Database (gnomAD) 0.00003
Links
ClinGen: CA8003061
dbSNP: rs747607776
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Dec 4, 2017 RCV000651710.1
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CORO1A - - GRCh38
GRCh37
55 195

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Dec 04, 2017)
criteria provided, single submitter
Method: clinical testing
Immunodeficiency 8
Allele origin: germline
Invitae
Accession: SCV000773564.1
Submitted: (Apr 02, 2018)
Evidence details

Citations for this variant

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 Oct 27, 2019