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NM_016952.4(CDON):c.2462G>A (p.Arg821His)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Mar 14, 2019)
Last evaluated:
Jan 3, 2019
Accession:
VCV000303497.2
Variation ID:
303497
Description:
single nucleotide variant
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NM_016952.4(CDON):c.2462G>A (p.Arg821His)

Allele ID
325452
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q24.2
Genomic location
11: 125994953 (GRCh38) GRCh38 UCSC
11: 125864848 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.125994953C>T
NC_000011.9:g.125864848C>T
NM_001243597.1:c.2462G>A NP_001230526.1:p.Arg821His missense
... more HGVS
Protein change
R821H
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
0.00120 (T)

Allele frequency
1000 Genomes Project 0.00120
Exome Aggregation Consortium (ExAC) 0.00054
Trans-Omics for Precision Medicine (TOPMed) 0.00112
The Genome Aggregation Database (gnomAD), exomes 0.00057
The Genome Aggregation Database (gnomAD) 0.00089
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00131
Links
ClinGen: CA6351716
dbSNP: rs146660717
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jun 14, 2016 RCV000326017.1
Likely benign 1 criteria provided, single submitter Jan 3, 2019 RCV000877156.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CDON - - GRCh38
GRCh37
248 310

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Holoprosencephaly
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000368725.2
Submitted: (Oct 18, 2016)
Evidence details
Likely benign
(Jan 03, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001019847.1
Submitted: (Mar 14, 2019)
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 Dec 17, 2019