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NM_006904.7(PRKDC):c.5572-4G>A

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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: Jan 7, 2021)
Last evaluated:
Oct 7, 2020
Accession:
VCV000625998.4
Variation ID:
625998
Description:
single nucleotide variant
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NM_006904.7(PRKDC):c.5572-4G>A

Allele ID
614320
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
8q11.21
Genomic location
8: 47863581 (GRCh38) GRCh38 UCSC
8: 48776142 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000008.11:g.47863581C>T
NG_023435.1:g.101603G>A
NM_001081640.2:c.5572-4G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000008.11:47863580:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00013
Exome Aggregation Consortium (ExAC) 0.00011
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00017
The Genome Aggregation Database (gnomAD), exomes 0.00019
Trans-Omics for Precision Medicine (TOPMed) 0.00015
Links
dbSNP: rs367584015
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Oct 7, 2020 RCV000768056.3
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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
943 978

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Nov 30, 2018)
criteria provided, single submitter
Method: clinical testing
Immunodeficiency 26 with or without neurologic abnormalities
Allele origin: germline
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
Accession: SCV000898910.1
Submitted: (Dec 12, 2018)
Evidence details
Comment:
PRKDC NM_006904.6 exon 42 c.5571-4G>A: This variant has not been reported in the literature and is present in 0.07% (25/33386) of Latino alleles in the … (more)
Likely benign
(Oct 07, 2020)
criteria provided, single submitter
Method: clinical testing
Immunodeficiency 26 with or without neurologic abnormalities
Allele origin: germline
Invitae
Accession: SCV001039436.3
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 rs367584015...

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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