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NM_006904.7(PRKDC):c.10684T>A (p.Leu3562Met)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Sep 8, 2021)
Last evaluated:
Nov 27, 2020
Accession:
VCV000440194.8
Variation ID:
440194
Description:
single nucleotide variant
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NM_006904.7(PRKDC):c.10684T>A (p.Leu3562Met)

Allele ID
433865
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
8q11.21
Genomic location
8: 47789225 (GRCh38) GRCh38 UCSC
8: 48701786 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000008.10:g.48701786A>T
NC_000008.11:g.47789225A>T
NG_023435.1:g.175959T>A
... more HGVS
Protein change
L3562M
Other names
-
Canonical SPDI
NC_000008.11:47789224:A:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00699 (T)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00051
Trans-Omics for Precision Medicine (TOPMed) 0.00564
The Genome Aggregation Database (gnomAD) 0.00322
The Genome Aggregation Database (gnomAD) 0.00453
Trans-Omics for Precision Medicine (TOPMed) 0.00677
1000 Genomes Project 0.00699
Exome Aggregation Consortium (ExAC) 0.00625
The Genome Aggregation Database (gnomAD), exomes 0.00746
Links
ClinGen: CA4739269
dbSNP: rs8178232
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 Mar 9, 2017 RCV000506229.3
Benign 1 criteria provided, single submitter Nov 27, 2020 RCV000557472.5
Benign 1 criteria provided, single submitter Sep 27, 2018 RCV001613335.3
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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
929 981

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Mar 09, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV000604918.1
Submitted: (Jun 30, 2017)
Evidence details
Benign
(Nov 27, 2020)
criteria provided, single submitter
Method: clinical testing
Immunodeficiency 26 with or without neurologic abnormalities
Allele origin: germline
Invitae
Accession: SCV000655359.5
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Sep 27, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001841133.1
Submitted: (Sep 08, 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 rs8178232...

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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 Dec 04, 2021