7-66075866-C-T
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 2P and 6B. PM2BP4_StrongBP6_Moderate
The NM_001024943.2(ASL):c.-216C>T variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_001024943.2 5_prime_UTR
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ASL | NM_000048.4 | c.-44+10C>T | intron_variant | Intron 1 of 16 | ENST00000304874.14 | NP_000039.2 | ||
ASL | NM_001024943.2 | c.-216C>T | 5_prime_UTR_variant | Exon 1 of 16 | NP_001020114.1 | |||
ASL | NM_001024944.2 | c.-216C>T | 5_prime_UTR_variant | Exon 1 of 15 | NP_001020115.1 | |||
ASL | NM_001024946.2 | c.-216C>T | 5_prime_UTR_variant | Exon 1 of 15 | NP_001020117.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Data not reliable, filtered out with message: AC0;AS_VQSR AF: 0.00 AC: 0AN: 423076Hom.: 0 Cov.: 5 AF XY: 0.00 AC XY: 0AN XY: 222548
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Benign:1
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at