20-44619552-G-A
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 2P and 8B. PM2BP4_ModerateBP6_ModerateBS1
The NM_000022.4(ADA):c.*282C>T variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000628 in 447,630 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_000022.4 3_prime_UTR
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ADA | NM_000022.4 | c.*282C>T | 3_prime_UTR_variant | Exon 12 of 12 | ENST00000372874.9 | NP_000013.2 | ||
ADA | NM_001322051.2 | c.*282C>T | 3_prime_UTR_variant | Exon 11 of 11 | NP_001308980.1 | |||
ADA | NM_001322050.2 | c.*282C>T | 3_prime_UTR_variant | Exon 11 of 11 | NP_001308979.1 | |||
ADA | NR_136160.2 | n.1401C>T | non_coding_transcript_exon_variant | Exon 11 of 11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ADA | ENST00000372874 | c.*282C>T | 3_prime_UTR_variant | Exon 12 of 12 | 1 | NM_000022.4 | ENSP00000361965.4 | |||
ADA | ENST00000695995 | c.*282C>T | 3_prime_UTR_variant | Exon 9 of 9 | ENSP00000512318.1 | |||||
ADA | ENST00000695991 | c.*282C>T | 3_prime_UTR_variant | Exon 8 of 8 | ENSP00000512314.1 | |||||
ADA | ENST00000695956 | c.*166C>T | 3_prime_UTR_variant | Exon 3 of 3 | ENSP00000512285.1 | |||||
ADA | ENST00000696038.1 | n.*1582C>T | downstream_gene_variant | ENSP00000512344.1 |
Frequencies
GnomAD3 genomes AF: 0.000565 AC: 86AN: 152088Hom.: 0 Cov.: 33
GnomAD4 exome AF: 0.000660 AC: 195AN: 295424Hom.: 0 Cov.: 3 AF XY: 0.000600 AC XY: 95AN XY: 158228
GnomAD4 genome AF: 0.000565 AC: 86AN: 152206Hom.: 0 Cov.: 33 AF XY: 0.000578 AC XY: 43AN XY: 74416
ClinVar
Submissions by phenotype
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency Benign:1
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at