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NM_030582.4(COL18A1):c.1368G>A (p.Ala456=)

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Interpretation:
Likely benign​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Oct 18, 2016)
Last evaluated:
Jun 14, 2016
Accession:
VCV000340208.1
Variation ID:
340208
Description:
single nucleotide variant
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NM_030582.4(COL18A1):c.1368G>A (p.Ala456=)

Allele ID
350831
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
21q22.3
Genomic location
21: 45476380 (GRCh38) GRCh38 UCSC
21: 46896294 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000021.8:g.46896294G>A
NC_000021.9:g.45476380G>A
NM_030582.4:c.1368G>A NP_085059.2:p.Ala456= synonymous
... more HGVS
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
0.09585 (A)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.02940
Trans-Omics for Precision Medicine (TOPMed) 0.07475
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.06832
Exome Aggregation Consortium (ExAC) 0.03414
The Genome Aggregation Database (gnomAD) 0.06427
1000 Genomes Project 0.09585
Links
ClinGen: CA10065949
dbSNP: rs2230686
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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 Jun 14, 2016 RCV000281218.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
COL18A1 - - GRCh38
GRCh37
146 355

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Knobloch Syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000436365.2
Submitted: (Oct 18, 2016)
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