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NM_006904.7(PRKDC):c.2421T>G (p.Asp807Glu)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 27, 2019
Accession:
VCV000961218.2
Variation ID:
961218
Description:
single nucleotide variant
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NM_006904.7(PRKDC):c.2421T>G (p.Asp807Glu)

Allele ID
946102
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
8q11.21
Genomic location
8: 47918382 (GRCh38) GRCh38 UCSC
8: 48830942 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000008.10:g.48830942A>C
NC_000008.11:g.47918382A>C
NM_006904.7:c.2421T>G MANE Select NP_008835.5:p.Asp807Glu missense
... more HGVS
Protein change
D807E
Other names
-
Canonical SPDI
NC_000008.11:47918381:A:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Oct 27, 2019 RCV001234874.2
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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
(Oct 27, 2019)
criteria provided, single submitter
Method: clinical testing
Immunodeficiency 26 with or without neurologic abnormalities
Allele origin: germline
Invitae
Accession: SCV001407534.2
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces aspartic acid with glutamic acid at codon 807 of the PRKDC protein (p.Asp807Glu). The aspartic acid residue is moderately conserved and … (more)

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.

Record last updated Apr 12, 2021