1-89582841-A-G
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_001369817.2(LRRC8B):āc.191A>Gā(p.Asn64Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000235 in 1,614,080 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001369817.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
LRRC8B | NM_001369817.2 | c.191A>G | p.Asn64Ser | missense_variant | 5/6 | ENST00000330947.7 | |
LRRC8B | NM_001134476.2 | c.191A>G | p.Asn64Ser | missense_variant | 7/8 | ||
LRRC8B | NM_001369819.2 | c.191A>G | p.Asn64Ser | missense_variant | 6/7 | ||
LRRC8B | NM_015350.4 | c.191A>G | p.Asn64Ser | missense_variant | 8/9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
LRRC8B | ENST00000330947.7 | c.191A>G | p.Asn64Ser | missense_variant | 5/6 | 5 | NM_001369817.2 | P1 | |
LRRC8C-DT | ENST00000655657.3 | n.1284T>C | non_coding_transcript_exon_variant | 4/4 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152192Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000319 AC: 8AN: 251018Hom.: 0 AF XY: 0.0000442 AC XY: 6AN XY: 135638
GnomAD4 exome AF: 0.0000239 AC: 35AN: 1461888Hom.: 0 Cov.: 34 AF XY: 0.0000193 AC XY: 14AN XY: 727244
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152192Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74340
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 07, 2023 | The c.191A>G (p.N64S) alteration is located in exon 5 (coding exon 1) of the LRRC8B gene. This alteration results from a A to G substitution at nucleotide position 191, causing the asparagine (N) at amino acid position 64 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at