rs55866966
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_StrongBP6_Moderate
The NM_006904.7(PRKDC):c.10750C>T(p.Leu3584Phe) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000298 in 1,613,016 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. 11/17 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★). Synonymous variant affecting the same amino acid position (i.e. L3584L) has been classified as Likely benign.
Frequency
Consequence
NM_006904.7 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PRKDC | NM_006904.7 | c.10750C>T | p.Leu3584Phe | missense_variant | 75/86 | ENST00000314191.7 | |
PRKDC | NM_001081640.2 | c.10750C>T | p.Leu3584Phe | missense_variant | 75/85 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PRKDC | ENST00000314191.7 | c.10750C>T | p.Leu3584Phe | missense_variant | 75/86 | 1 | NM_006904.7 | P1 | |
PRKDC | ENST00000338368.7 | c.10750C>T | p.Leu3584Phe | missense_variant | 75/85 | 1 | |||
PRKDC | ENST00000697603.1 | c.3427C>T | p.Leu1143Phe | missense_variant | 22/33 | ||||
PRKDC | ENST00000697602.1 | n.1323C>T | non_coding_transcript_exon_variant | 7/18 |
Frequencies
GnomAD3 genomes ? AF: 0.000296 AC: 45AN: 151974Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000546 AC: 136AN: 248918Hom.: 0 AF XY: 0.000481 AC XY: 65AN XY: 135074
GnomAD4 exome AF: 0.000299 AC: 437AN: 1460930Hom.: 2 Cov.: 31 AF XY: 0.000297 AC XY: 216AN XY: 726784
GnomAD4 genome ? AF: 0.000289 AC: 44AN: 152086Hom.: 0 Cov.: 32 AF XY: 0.000309 AC XY: 23AN XY: 74338
ClinVar
Submissions by phenotype
Severe combined immunodeficiency due to DNA-PKcs deficiency Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Dec 23, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at