5-161847421-C-T
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 2P and 6B. PM2BP4_StrongBP6_Moderate
The NM_000806.5(GABRA1):c.-248+10C>T variant causes a intron 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_000806.5 intron
Scores
Clinical Significance
Conservation
Genome browser will be placed here
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 |
---|---|---|---|---|---|---|---|---|---|---|
GABRA1 | ENST00000023897.10 | c.-248+10C>T | intron_variant | Intron 1 of 10 | 1 | ENSP00000023897.6 | ||||
GABRA1 | ENST00000638112 | c.-293C>T | 5_prime_UTR_variant | Exon 1 of 11 | 5 | ENSP00000489839.1 | ||||
GABRA1 | ENST00000635096.1 | c.-540C>T | upstream_gene_variant | 5 | ENSP00000489033.1 | |||||
GABRA1 | ENST00000635916.2 | n.-242C>T | upstream_gene_variant | 5 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome Cov.: 0
GnomAD4 genome Cov.: 31
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