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NM_006904.7(PRKDC):c.9446G>A (p.Gly3149Asp)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 2, 2020
Accession:
VCV000475242.5
Variation ID:
475242
Description:
single nucleotide variant
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NM_006904.7(PRKDC):c.9446G>A (p.Gly3149Asp)

Allele ID
457879
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
8q11.21
Genomic location
8: 47817561 (GRCh38) GRCh38 UCSC
8: 48730122 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000008.11:g.47817561C>T
NG_023435.1:g.147623G>A
NM_001081640.2:c.9446G>A NP_001075109.1:p.Gly3149Asp missense
... more HGVS
Protein change
G3149D
Other names
-
Canonical SPDI
NC_000008.11:47817560:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00839 (T)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00519
1000 Genomes Project 0.00839
Trans-Omics for Precision Medicine (TOPMed) 0.00315
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00356
Exome Aggregation Consortium (ExAC) 0.00882
The Genome Aggregation Database (gnomAD) 0.00312
Links
ClinGen: CA4739564
dbSNP: rs8178208
VarSome
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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 Dec 2, 2020 RCV000537686.5
Likely benign 1 criteria provided, single submitter Sep 1, 2017 RCV000609326.1
Benign 1 no assertion criteria provided - RCV001269484.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
PRKDC - - GRCh38
GRCh37
943 978

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Sep 01, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000729569.1
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
(Dec 02, 2020)
criteria provided, single submitter
Method: clinical testing
Immunodeficiency 26 with or without neurologic abnormalities
Allele origin: germline
Invitae
Accession: SCV000655403.5
Submitted: (Jan 07, 2021)
Evidence details
Benign
(-)
no assertion criteria provided
Method: clinical testing
Breast Cancer
Allele origin: germline
Center of Medical Genetics and Primary Health Care
Accession: SCV001449052.1
Submitted: (Dec 08, 2020)
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 rs8178208...

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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 Oct 30, 2021