chr1-89557237-A-G
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Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001369817.2(LRRC8B):c.-240-11010A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.511 in 151,544 control chromosomes in the GnomAD database, including 20,009 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.51 ( 20009 hom., cov: 31)
Consequence
LRRC8B
NM_001369817.2 intron
NM_001369817.2 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -1.17
Genes affected
LRRC8B (HGNC:30692): (leucine rich repeat containing 8 VRAC subunit B) Contributes to volume-sensitive anion channel activity. Involved in anion transmembrane transport. Located in cytoplasm and plasma membrane. Is integral component of plasma membrane. Part of ion channel complex. [provided by Alliance of Genome Resources, Apr 2022]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -12 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.93).
BA1
GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.558 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
LRRC8B | NM_001369817.2 | c.-240-11010A>G | intron_variant | ENST00000330947.7 | |||
LRRC8B | NM_001134476.2 | c.-241+7266A>G | intron_variant | ||||
LRRC8B | NM_001369819.2 | c.-240-11010A>G | intron_variant | ||||
LRRC8B | NM_015350.4 | c.-566-1474A>G | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
LRRC8B | ENST00000330947.7 | c.-240-11010A>G | intron_variant | 5 | NM_001369817.2 | P1 |
Frequencies
GnomAD3 genomes AF: 0.511 AC: 77310AN: 151428Hom.: 19980 Cov.: 31
GnomAD3 genomes
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome AF: 0.511 AC: 77394AN: 151544Hom.: 20009 Cov.: 31 AF XY: 0.510 AC XY: 37737AN XY: 74022
GnomAD4 genome
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31
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37737
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74022
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1480
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3478
ClinVar
Not reported inComputational scores
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Name
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Prediction
BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at