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NM_006904.7(PRKDC):c.16G>T (p.Ala6Ser)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 2, 2020
Accession:
VCV000379772.4
Variation ID:
379772
Description:
single nucleotide variant
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NM_006904.7(PRKDC):c.16G>T (p.Ala6Ser)

Allele ID
370277
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
8q11.21
Genomic location
8: 47960111 (GRCh38) GRCh38 UCSC
8: 48872671 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_162:g.5073G>T
LRG_1239:g.4909C>A
LRG_162t1:c.16G>T LRG_162p1:p.Ala6Ser
... more HGVS
Protein change
A6S
Other names
-
Canonical SPDI
NC_000008.11:47960110:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.02756 (A)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.01855
1000 Genomes Project 0.02756
Exome Aggregation Consortium (ExAC) 0.00612
Trans-Omics for Precision Medicine (TOPMed) 0.03079
Links
ClinGen: CA4742121
dbSNP: rs8177999
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 Mar 3, 2016 RCV000434602.1
Benign 1 criteria provided, single submitter Dec 2, 2020 RCV000552167.5
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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
Benign
(Mar 03, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000517183.4
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
(Dec 02, 2020)
criteria provided, single submitter
Method: clinical testing
Immunodeficiency 26 with or without neurologic abnormalities
Allele origin: germline
Invitae
Accession: SCV000655367.5
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 rs8177999...

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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