11-61958146-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_001363593.2(BEST1):c.-461G>T variant causes a 5 prime UTR premature start codon gain change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000021 in 47,614 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001363593.2 5_prime_UTR_premature_start_codon_gain
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
BEST1 | NM_004183.4 | c.715G>T | p.Val239Leu | missense_variant, splice_region_variant | 7/11 | ENST00000378043.9 | NP_004174.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
BEST1 | ENST00000378043.9 | c.715G>T | p.Val239Leu | missense_variant, splice_region_variant | 7/11 | 1 | NM_004183.4 | ENSP00000367282.4 |
Frequencies
GnomAD3 genomes AF: 0.0000210 AC: 1AN: 47614Hom.: 0 Cov.: 0
GnomAD4 exome Cov.: 31
GnomAD4 genome AF: 0.0000210 AC: 1AN: 47614Hom.: 0 Cov.: 0 AF XY: 0.00 AC XY: 0AN XY: 23280
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at