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NM_006904.7(PRKDC):c.7474G>C (p.Asp2492His)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
May 15, 2019
Accession:
VCV000834969.2
Variation ID:
834969
Description:
single nucleotide variant
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NM_006904.7(PRKDC):c.7474G>C (p.Asp2492His)

Allele ID
834822
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
8q11.21
Genomic location
8: 47839227 (GRCh38) GRCh38 UCSC
8: 48751788 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000008.10:g.48751788C>G
NC_000008.11:g.47839227C>G
NM_006904.7:c.7474G>C MANE Select NP_008835.5:p.Asp2492His missense
... more HGVS
Protein change
D2492H
Other names
-
Canonical SPDI
NC_000008.11:47839226:C:G
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 May 15, 2019 RCV001035761.1
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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
(May 15, 2019)
criteria provided, single submitter
Method: clinical testing
Immunodeficiency 26 with or without neurologic abnormalities
Allele origin: germline
Invitae
Accession: SCV001199096.2
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces aspartic acid with histidine at codon 2492 of the PRKDC protein (p.Asp2492His). The aspartic acid residue is highly conserved and there … (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 Mar 22, 2021