chr19-7899370-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_025061.6(LRRC8E):āc.848T>Cā(p.Leu283Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000205 in 1,461,864 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_025061.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
LRRC8E | NM_025061.6 | c.848T>C | p.Leu283Pro | missense_variant | 3/3 | ENST00000306708.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
LRRC8E | ENST00000306708.11 | c.848T>C | p.Leu283Pro | missense_variant | 3/3 | 1 | NM_025061.6 | P1 | |
ENST00000539278.1 | n.4173A>G | non_coding_transcript_exon_variant | 1/1 | ||||||
LRRC8E | ENST00000618098.4 | c.848T>C | p.Leu283Pro | missense_variant | 4/4 | 3 | P1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1461864Hom.: 0 Cov.: 38 AF XY: 0.00000413 AC XY: 3AN XY: 727228
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 13, 2023 | The c.848T>C (p.L283P) alteration is located in exon 3 (coding exon 2) of the LRRC8E gene. This alteration results from a T to C substitution at nucleotide position 848, causing the leucine (L) at amino acid position 283 to be replaced by a proline (P). 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