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NM_006904.7(PRKDC):c.967-10G>T

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Interpretation:
Benign​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 18, 2020
Accession:
VCV000542019.4
Variation ID:
542019
Description:
single nucleotide variant
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NM_006904.7(PRKDC):c.967-10G>T

Allele ID
524250
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
8q11.21
Genomic location
8: 47939707 (GRCh38) GRCh38 UCSC
8: 48852267 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000008.10:g.48852267C>A
NC_000008.11:g.47939707C>A
NG_023435.1:g.25477G>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000008.11:47939706:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00319 (A)

Allele frequency
1000 Genomes Project 0.00319
The Genome Aggregation Database (gnomAD) 0.00359
Trans-Omics for Precision Medicine (TOPMed) 0.00378
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00307
The Genome Aggregation Database (gnomAD) 0.00328
Trans-Omics for Precision Medicine (TOPMed) 0.00354
Links
ClinGen: CA4741861
dbSNP: rs186115112
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 Nov 18, 2020 RCV000652382.4
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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
Benign
(Nov 18, 2020)
criteria provided, single submitter
Method: clinical testing
Immunodeficiency 26 with or without neurologic abnormalities
Allele origin: germline
Invitae
Accession: SCV000774252.4
Submitted: (Jan 07, 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 rs186115112...

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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 Nov 27, 2021