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NM_006904.7(PRKDC):c.5837A>G (p.Asn1946Ser)

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Interpretation:
Likely benign​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 2, 2020
Accession:
VCV000773908.3
Variation ID:
773908
Description:
single nucleotide variant
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NM_006904.7(PRKDC):c.5837A>G (p.Asn1946Ser)

Allele ID
700598
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
8q11.21
Genomic location
8: 47862455 (GRCh38) GRCh38 UCSC
8: 48775016 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000008.10:g.48775016T>C
NC_000008.11:g.47862455T>C
NM_006904.7:c.5837A>G MANE Select NP_008835.5:p.Asn1946Ser missense
... more HGVS
Protein change
N1946S
Other names
-
Canonical SPDI
NC_000008.11:47862454:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.00100 (C)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00114
The Genome Aggregation Database (gnomAD), exomes 0.00041
Trans-Omics for Precision Medicine (TOPMed) 0.00148
Exome Aggregation Consortium (ExAC) 0.00044
1000 Genomes Project 0.00100
The Genome Aggregation Database (gnomAD) 0.00118
Links
dbSNP: rs55835956
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 Dec 2, 2020 RCV000953758.3
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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
Likely benign
(Dec 02, 2020)
criteria provided, single submitter
Method: clinical testing
Immunodeficiency 26 with or without neurologic abnormalities
Allele origin: germline
Invitae
Accession: SCV001100345.3
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 rs55835956...

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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 May 16, 2021