chr1-89557237-A-G

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

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -1.17
Variant links:
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
LRRC8BNM_001369817.2 linkuse as main transcriptc.-240-11010A>G intron_variant ENST00000330947.7
LRRC8BNM_001134476.2 linkuse as main transcriptc.-241+7266A>G intron_variant
LRRC8BNM_001369819.2 linkuse as main transcriptc.-240-11010A>G intron_variant
LRRC8BNM_015350.4 linkuse as main transcriptc.-566-1474A>G intron_variant

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Appris UniProt
LRRC8BENST00000330947.7 linkuse as main transcriptc.-240-11010A>G intron_variant 5 NM_001369817.2 P1

Frequencies

GnomAD3 genomes
AF:
0.511
AC:
77310
AN:
151428
Hom.:
19980
Cov.:
31
show subpopulations
Gnomad AFR
AF:
0.473
Gnomad AMI
AF:
0.546
Gnomad AMR
AF:
0.519
Gnomad ASJ
AF:
0.573
Gnomad EAS
AF:
0.207
Gnomad SAS
AF:
0.578
Gnomad FIN
AF:
0.516
Gnomad MID
AF:
0.554
Gnomad NFE
AF:
0.545
Gnomad OTH
AF:
0.518
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.511
AC:
77394
AN:
151544
Hom.:
20009
Cov.:
31
AF XY:
0.510
AC XY:
37737
AN XY:
74022
show subpopulations
Gnomad4 AFR
AF:
0.473
Gnomad4 AMR
AF:
0.519
Gnomad4 ASJ
AF:
0.573
Gnomad4 EAS
AF:
0.207
Gnomad4 SAS
AF:
0.576
Gnomad4 FIN
AF:
0.516
Gnomad4 NFE
AF:
0.545
Gnomad4 OTH
AF:
0.523
Alfa
AF:
0.535
Hom.:
35477
Bravo
AF:
0.504
Asia WGS
AF:
0.425
AC:
1480
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.93
CADD
Benign
0.17
DANN
Benign
0.41

Splicing

Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
0.0
Details are displayed if max score is > 0.2

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Below is the list of publications found by LitVar. It may be empty.

Other links and lift over

dbSNP: rs922107; hg19: chr1-90022796; COSMIC: COSV58373821; API