rs121908728
Variant summary
Our verdict is Likely pathogenic. Variant got 7 ACMG points: 7P and 0B. PM1PM2PM5PP3
The NM_000022.4(ADA):āc.454C>Gā(p.Leu152Val) variant causes a missense change. The variant allele was found at a frequency of 0.00000209 in 1,435,352 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic 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. L152M) has been classified as Likely pathogenic.
Frequency
Consequence
NM_000022.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 7 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ADA | NM_000022.4 | c.454C>G | p.Leu152Val | missense_variant | 5/12 | ENST00000372874.9 | |
ADA | NM_001322051.2 | c.454C>G | p.Leu152Val | missense_variant | 5/11 | ||
ADA | NM_001322050.2 | c.73+863C>G | intron_variant | ||||
ADA | NR_136160.2 | n.546C>G | non_coding_transcript_exon_variant | 5/11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ADA | ENST00000372874.9 | c.454C>G | p.Leu152Val | missense_variant | 5/12 | 1 | NM_000022.4 | P4 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.00000954 AC: 2AN: 209700Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 112748
GnomAD4 exome AF: 0.00000209 AC: 3AN: 1435352Hom.: 0 Cov.: 31 AF XY: 0.00000141 AC XY: 1AN XY: 711490
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at