rs73598374
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The ENST00000372874.9(ADA):c.22G>T(p.Asp8Tyr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000144 in 1,388,788 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. D8N) has been classified as Benign.
Frequency
Consequence
ENST00000372874.9 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ADA | NM_000022.4 | c.22G>T | p.Asp8Tyr | missense_variant | 1/12 | ENST00000372874.9 | NP_000013.2 | |
ADA | NM_001322051.2 | c.22G>T | p.Asp8Tyr | missense_variant | 1/11 | NP_001308980.1 | ||
ADA | NM_001322050.2 | c.-268G>T | 5_prime_UTR_variant | 1/11 | NP_001308979.1 | |||
ADA | NR_136160.2 | n.114G>T | non_coding_transcript_exon_variant | 1/11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ADA | ENST00000372874.9 | c.22G>T | p.Asp8Tyr | missense_variant | 1/12 | 1 | NM_000022.4 | ENSP00000361965 | P4 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000713 AC: 1AN: 140254Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 77720
GnomAD4 exome AF: 0.00000144 AC: 2AN: 1388788Hom.: 0 Cov.: 32 AF XY: 0.00000146 AC XY: 1AN XY: 686854
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at