rs8187801
Variant summary
Our verdict is Likely pathogenic. Variant got 9 ACMG points: 9P and 0B. PM1PM2PP2PP3_Strong
The NM_000443.4(ABCB4):c.2363G>T(p.Arg788Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000752 in 1,461,806 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. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R788Q) has been classified as Likely benign.
Frequency
Consequence
NM_000443.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 9 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ABCB4 | NM_000443.4 | c.2363G>T | p.Arg788Leu | missense_variant | 19/28 | ENST00000649586.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ABCB4 | ENST00000649586.2 | c.2363G>T | p.Arg788Leu | missense_variant | 19/28 | NM_000443.4 | P1 | ||
ABCB4 | ENST00000265723.8 | c.2363G>T | p.Arg788Leu | missense_variant | 19/28 | 1 | |||
ABCB4 | ENST00000359206.8 | c.2363G>T | p.Arg788Leu | missense_variant | 19/28 | 1 | P1 | ||
ABCB4 | ENST00000453593.5 | c.2363G>T | p.Arg788Leu | missense_variant | 18/26 | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.00000796 AC: 2AN: 251236Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135776
GnomAD4 exome AF: 0.00000752 AC: 11AN: 1461806Hom.: 0 Cov.: 31 AF XY: 0.0000124 AC XY: 9AN XY: 727212
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at