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NM_006904.6(PRKDC):c.4809G>T (p.Gln1603His)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Apr 2, 2018)
Last evaluated:
Nov 29, 2017
Accession:
VCV000379756.1
Variation ID:
379756
Description:
single nucleotide variant
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NM_006904.6(PRKDC):c.4809G>T (p.Gln1603His)

Allele ID
369491
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
8q11.21
Genomic location
8: 47882065 (GRCh38) GRCh38 UCSC
8: 48794626 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000008.11:g.47882065C>A
NC_000008.10:g.48794626C>A
NM_006904.6:c.4809G>T NP_008835.5:p.Gln1603His missense
... more HGVS
Protein change
Q1603H
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
0.00240 (A)

Allele frequency
1000 Genomes Project 0.00240
Exome Aggregation Consortium (ExAC) 0.00328
The Genome Aggregation Database (gnomAD), exomes 0.00395
The Genome Aggregation Database (gnomAD) 0.00055
Trans-Omics for Precision Medicine (TOPMed) 0.00164
Links
dbSNP: rs8178106
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Jan 10, 2017 RCV000440266.1
Benign 1 criteria provided, single submitter Nov 29, 2017 RCV000525089.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
PRKDC - - GRCh38
GRCh37
190 219

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Jan 10, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000517132.4
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at ... (more)
Benign
(Nov 29, 2017)
criteria provided, single submitter
Method: clinical testing
Immunodeficiency 26 with or without neurologic abnormalities
Allele origin: germline
Invitae
Accession: SCV000655382.2
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 Jun 22, 2019