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NM_006904.7(PRKDC):c.11805C>T (p.Gly3935=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Sep 23, 2021)
Last evaluated:
May 1, 2021
Accession:
VCV000379753.7
Variation ID:
379753
Description:
single nucleotide variant
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NM_006904.7(PRKDC):c.11805C>T (p.Gly3935=)

Allele ID
371875
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
8q11.21
Genomic location
8: 47778507 (GRCh38) GRCh38 UCSC
8: 48691068 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000008.11:g.47778507G>A
NG_023435.1:g.186677C>T
NM_001081640.2:c.11712C>T NP_001075109.1:p.Gly3904= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000008.11:47778506:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00180 (A)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00483
Trans-Omics for Precision Medicine (TOPMed) 0.00403
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00470
Exome Aggregation Consortium (ExAC) 0.00555
The Genome Aggregation Database (gnomAD) 0.00748
1000 Genomes Project 0.00180
The Genome Aggregation Database (gnomAD), exomes 0.00533
The Genome Aggregation Database (gnomAD) 0.00590
Links
ClinGen: CA4738991
dbSNP: rs8178249
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 Sep 2, 2017 RCV000434056.2
Benign 1 criteria provided, single submitter Nov 21, 2020 RCV000528197.5
Likely benign 3 criteria provided, single submitter May 1, 2021 RCV001532143.3
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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
929 981

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Sep 02, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000517120.4
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 21, 2020)
criteria provided, single submitter
Method: clinical testing
Immunodeficiency 26 with or without neurologic abnormalities
Allele origin: germline
Invitae
Accession: SCV000655362.5
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(May 01, 2021)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001747558.1
Submitted: (Jul 04, 2021)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Genome Diagnostics Laboratory, University Medical Center Utrecht
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001929438.1
Submitted: (Sep 23, 2021)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001968302.1
Submitted: (Sep 21, 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.

Text-mined citations for rs8178249...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Dec 04, 2021