rs79703138
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 1P and 6B. PM4_SupportingBP6_ModerateBS2
The NM_006904.7(PRKDC):βc.6338_6340delβ(p.Gly2113del) variant causes a inframe deletion change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00316 in 1,613,134 control chromosomes in the GnomAD database, including 116 homozygotes. Variant has been reported in ClinVar as Benign (β ). Synonymous variant affecting the same amino acid position (i.e. G2113G) has been classified as Likely benign.
Frequency
Consequence
NM_006904.7 inframe_deletion
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PRKDC | NM_006904.7 | c.6338_6340del | p.Gly2113del | inframe_deletion | 47/86 | ENST00000314191.7 | |
PRKDC | NM_001081640.2 | c.6338_6340del | p.Gly2113del | inframe_deletion | 47/85 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PRKDC | ENST00000314191.7 | c.6338_6340del | p.Gly2113del | inframe_deletion | 47/86 | 1 | NM_006904.7 | P1 | |
PRKDC | ENST00000338368.7 | c.6338_6340del | p.Gly2113del | inframe_deletion | 47/85 | 1 | |||
PRKDC | ENST00000697609.1 | n.499_501del | non_coding_transcript_exon_variant | 1/4 | |||||
PRKDC | ENST00000697610.1 | n.139_141del | non_coding_transcript_exon_variant | 2/4 |
Frequencies
GnomAD3 genomes ? AF: 0.00578 AC: 880AN: 152136Hom.: 27 Cov.: 32
GnomAD3 exomes AF: 0.00712 AC: 1770AN: 248556Hom.: 42 AF XY: 0.00716 AC XY: 966AN XY: 134830
GnomAD4 exome AF: 0.00289 AC: 4219AN: 1460880Hom.: 89 AF XY: 0.00287 AC XY: 2082AN XY: 726592
GnomAD4 genome ? AF: 0.00578 AC: 880AN: 152254Hom.: 27 Cov.: 32 AF XY: 0.00887 AC XY: 660AN XY: 74424
ClinVar
Submissions by phenotype
Severe combined immunodeficiency due to DNA-PKcs deficiency Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Dec 25, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at