22-40349948-T-C
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 2P and 6B. PM2BP4_StrongBP6BP7
The NM_000026.4(ADSL):āc.270T>Cā(p.Ala90Ala) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000675 in 1,614,028 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 Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_000026.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ADSL | ENST00000623063.3 | c.270T>C | p.Ala90Ala | synonymous_variant | Exon 2 of 13 | 1 | NM_000026.4 | ENSP00000485525.1 | ||
ENSG00000284431 | ENST00000639722.1 | n.*91T>C | non_coding_transcript_exon_variant | Exon 3 of 31 | 5 | ENSP00000492828.1 | ||||
ENSG00000284431 | ENST00000639722.1 | n.*91T>C | 3_prime_UTR_variant | Exon 3 of 31 | 5 | ENSP00000492828.1 |
Frequencies
GnomAD3 genomes AF: 0.000322 AC: 49AN: 152156Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000954 AC: 24AN: 251490Hom.: 0 AF XY: 0.0000809 AC XY: 11AN XY: 135920
GnomAD4 exome AF: 0.0000410 AC: 60AN: 1461872Hom.: 0 Cov.: 32 AF XY: 0.0000330 AC XY: 24AN XY: 727238
GnomAD4 genome AF: 0.000322 AC: 49AN: 152156Hom.: 0 Cov.: 31 AF XY: 0.000350 AC XY: 26AN XY: 74338
ClinVar
Submissions by phenotype
not provided Uncertain:1Benign:1
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not specified Benign:2
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Adenylosuccinate lyase deficiency Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at