rs3750319
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_019594.4(LRRC8A):c.1476T>A(p.Arg492=) variant causes a synonymous 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. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. R492R) has been classified as Benign.
Frequency
Consequence
NM_019594.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
LRRC8A | NM_019594.4 | c.1476T>A | p.Arg492= | synonymous_variant | 3/4 | ENST00000372600.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
LRRC8A | ENST00000372600.9 | c.1476T>A | p.Arg492= | synonymous_variant | 3/4 | 1 | NM_019594.4 | P1 | |
LRRC8A | ENST00000372599.7 | c.1476T>A | p.Arg492= | synonymous_variant | 2/3 | 1 | P1 | ||
LRRC8A | ENST00000259324.5 | c.1476T>A | p.Arg492= | synonymous_variant | 3/4 | 2 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00 AC: 0AN: 152056Hom.: 0 Cov.: 33 FAILED QC
GnomAD4 exome Cov.: 89
GnomAD4 genome ? Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 152056Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74274
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at