20-44619854-G-A
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 2P and 6B. PM2BP4_StrongBP6_Moderate
The NM_000022.4(ADA):c.1079-7C>T variant causes a splice region, splice polypyrimidine tract, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000347 in 1,614,148 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_000022.4 splice_region, splice_polypyrimidine_tract, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ADA | NM_000022.4 | c.1079-7C>T | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | ENST00000372874.9 | |||
ADA | NM_001322050.2 | c.674-7C>T | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | ||||
ADA | NM_001322051.2 | c.1007-7C>T | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | ||||
ADA | NR_136160.2 | n.1106-7C>T | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ADA | ENST00000372874.9 | c.1079-7C>T | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | 1 | NM_000022.4 | P4 |
Frequencies
GnomAD3 genomes ? AF: 0.0000591 AC: 9AN: 152196Hom.: 1 Cov.: 33
GnomAD3 exomes AF: 0.000120 AC: 30AN: 250822Hom.: 1 AF XY: 0.0000737 AC XY: 10AN XY: 135620
GnomAD4 exome AF: 0.0000322 AC: 47AN: 1461834Hom.: 0 Cov.: 30 AF XY: 0.0000206 AC XY: 15AN XY: 727226
GnomAD4 genome ? AF: 0.0000591 AC: 9AN: 152314Hom.: 1 Cov.: 33 AF XY: 0.0000403 AC XY: 3AN XY: 74472
ClinVar
Submissions by phenotype
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency Benign:2
Likely benign, no assertion criteria provided | clinical testing | Natera, Inc. | Jan 24, 2020 | - - |
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 29, 2024 | - - |
not provided Benign:2
Likely benign, no assertion criteria provided | clinical testing | Genome Diagnostics Laboratory, University Medical Center Utrecht | - | - - |
Likely benign, no assertion criteria provided | clinical testing | Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center | - | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at