1-89583942-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PP2PP3
The NM_001369817.2(LRRC8B):c.1292G>A(p.Gly431Asp) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000372 in 1,614,056 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. G431S) has been classified as Uncertain significance.
Frequency
Consequence
NM_001369817.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
LRRC8B | NM_001369817.2 | c.1292G>A | p.Gly431Asp | missense_variant | 5/6 | ENST00000330947.7 | |
LRRC8B | NM_001134476.2 | c.1292G>A | p.Gly431Asp | missense_variant | 7/8 | ||
LRRC8B | NM_001369819.2 | c.1292G>A | p.Gly431Asp | missense_variant | 6/7 | ||
LRRC8B | NM_015350.4 | c.1292G>A | p.Gly431Asp | missense_variant | 8/9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
LRRC8B | ENST00000330947.7 | c.1292G>A | p.Gly431Asp | missense_variant | 5/6 | 5 | NM_001369817.2 | P1 | |
LRRC8C-DT | ENST00000655657.3 | n.701-518C>T | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152182Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000798 AC: 2AN: 250634Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135504
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1461874Hom.: 0 Cov.: 34 AF XY: 0.00000138 AC XY: 1AN XY: 727234
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152182Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74328
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at