chr8-85112941-C-T
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_033402.5(LRRCC1):c.386C>T(p.Pro129Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000154 in 1,563,060 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_033402.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
LRRCC1 | NM_033402.5 | c.386C>T | p.Pro129Leu | missense_variant | 4/19 | ENST00000360375.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
LRRCC1 | ENST00000360375.8 | c.386C>T | p.Pro129Leu | missense_variant | 4/19 | 1 | NM_033402.5 | P2 |
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 151966Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000487 AC: 11AN: 225968Hom.: 1 AF XY: 0.0000567 AC XY: 7AN XY: 123362
GnomAD4 exome AF: 0.0000163 AC: 23AN: 1411094Hom.: 2 Cov.: 27 AF XY: 0.0000186 AC XY: 13AN XY: 698250
GnomAD4 genome AF: 0.00000658 AC: 1AN: 151966Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74210
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at