chr20-44619661-C-T
Variant names:
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_000022.4(ADA):c.*173G>A variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000374 in 801,434 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.
Frequency
Genomes: 𝑓 0.00011 ( 0 hom., cov: 33)
Exomes 𝑓: 0.000022 ( 0 hom. )
Consequence
ADA
NM_000022.4 3_prime_UTR
NM_000022.4 3_prime_UTR
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -2.13
Genes affected
ADA (HGNC:186): (adenosine deaminase) This gene encodes an enzyme that catalyzes the hydrolysis of adenosine to inosine in the purine catabolic pathway. Various mutations have been described for this gene and have been linked to human diseases related to impaired immune function such as severe combined immunodeficiency disease (SCID) which is the result of a deficiency in the ADA enzyme. In ADA-deficient individuals there is a marked depletion of T, B, and NK lymphocytes, and consequently, a lack of both humoral and cellular immunity. Conversely, elevated levels of this enzyme are associated with congenital hemolytic anemia. [provided by RefSeq, Sep 2019]
PKIG (HGNC:9019): (cAMP-dependent protein kinase inhibitor gamma) This gene encodes a member of the protein kinase inhibitor family. Studies of a similar protein in mice suggest that this protein acts as a potent competitive cAMP-dependent protein kinase inhibitor, and is a predominant form of inhibitor in various tissues. The encoded protein may be involved in osteogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
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ACMG classification
Classification made for transcript
Verdict is Likely_benign. Variant got -2 ACMG points.
PM2
Very rare variant in population databases, with high coverage;
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.86).
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ADA | NM_000022.4 | c.*173G>A | 3_prime_UTR_variant | Exon 12 of 12 | ENST00000372874.9 | NP_000013.2 | ||
ADA | NM_001322051.2 | c.*173G>A | 3_prime_UTR_variant | Exon 11 of 11 | NP_001308980.1 | |||
ADA | NM_001322050.2 | c.*173G>A | 3_prime_UTR_variant | Exon 11 of 11 | NP_001308979.1 | |||
ADA | NR_136160.2 | n.1292G>A | 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.*173G>A | 3_prime_UTR_variant | Exon 12 of 12 | 1 | NM_000022.4 | ENSP00000361965.4 | |||
ADA | ENST00000695995 | c.*173G>A | 3_prime_UTR_variant | Exon 9 of 9 | ENSP00000512318.1 | |||||
ADA | ENST00000695991 | c.*173G>A | 3_prime_UTR_variant | Exon 8 of 8 | ENSP00000512314.1 | |||||
ADA | ENST00000695956 | c.*57G>A | 3_prime_UTR_variant | Exon 3 of 3 | ENSP00000512285.1 | |||||
ADA | ENST00000696038.1 | n.*1473G>A | non_coding_transcript_exon_variant | Exon 9 of 9 | ENSP00000512344.1 | |||||
ADA | ENST00000696038.1 | n.*1473G>A | 3_prime_UTR_variant | Exon 9 of 9 | ENSP00000512344.1 |
Frequencies
GnomAD3 genomes AF: 0.000105 AC: 16AN: 152182Hom.: 0 Cov.: 33
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GnomAD4 exome AF: 0.0000216 AC: 14AN: 649252Hom.: 0 Cov.: 9 AF XY: 0.0000266 AC XY: 9AN XY: 338978
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GnomAD4 genome AF: 0.000105 AC: 16AN: 152182Hom.: 0 Cov.: 33 AF XY: 0.000108 AC XY: 8AN XY: 74334
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ClinVar
Not reported inComputational scores
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Benign
CADD
Benign
DANN
Benign
RBP_binding_hub_radar
RBP_regulation_power_radar
Splicing
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Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at