chr8-47954424-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_006904.7(PRKDC):c.422C>A(p.Ser141Tyr) variant causes a missense change. The variant allele was found at a frequency of 0.00000501 in 1,197,652 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. S141C) has been classified as Likely benign.
Frequency
Consequence
NM_006904.7 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PRKDC | NM_006904.7 | c.422C>A | p.Ser141Tyr | missense_variant | 5/86 | ENST00000314191.7 | |
PRKDC | NM_001081640.2 | c.422C>A | p.Ser141Tyr | missense_variant | 5/85 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PRKDC | ENST00000314191.7 | c.422C>A | p.Ser141Tyr | missense_variant | 5/86 | 1 | NM_006904.7 | P1 | |
PRKDC | ENST00000338368.7 | c.422C>A | p.Ser141Tyr | missense_variant | 5/85 | 1 | |||
PRKDC | ENST00000540819.1 | c.137C>A | p.Ser46Tyr | missense_variant | 5/5 | 3 | |||
PRKDC | ENST00000697591.1 | n.463C>A | non_coding_transcript_exon_variant | 5/15 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000770 AC: 1AN: 129850Hom.: 0 AF XY: 0.0000145 AC XY: 1AN XY: 68798
GnomAD4 exome AF: 0.00000501 AC: 6AN: 1197652Hom.: 0 Cov.: 20 AF XY: 0.00000678 AC XY: 4AN XY: 590096
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at