rs11555566
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_000022.4(ADA):c.239A>T(p.Lys80Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 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. K80R) has been classified as Benign.
Frequency
Consequence
NM_000022.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ADA | NM_000022.4 | c.239A>T | p.Lys80Ile | missense_variant | Exon 4 of 12 | ENST00000372874.9 | NP_000013.2 | |
ADA | NM_001322051.2 | c.239A>T | p.Lys80Ile | missense_variant | Exon 4 of 11 | NP_001308980.1 | ||
ADA | NM_001322050.2 | c.-51A>T | 5_prime_UTR_variant | Exon 4 of 11 | NP_001308979.1 | |||
ADA | NR_136160.2 | n.331A>T | non_coding_transcript_exon_variant | Exon 4 of 11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ADA | ENST00000372874.9 | c.239A>T | p.Lys80Ile | missense_variant | Exon 4 of 12 | 1 | NM_000022.4 | ENSP00000361965.4 | ||
ADA | ENST00000695995.1 | c.216+2470A>T | intron_variant | Intron 3 of 8 | ENSP00000512318.1 | |||||
ADA | ENST00000695991.1 | c.216+2470A>T | intron_variant | Intron 3 of 7 | ENSP00000512314.1 | |||||
ADA | ENST00000696038.1 | n.237A>T | non_coding_transcript_exon_variant | Exon 4 of 9 | ENSP00000512344.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 32
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.