chrX-37572374-C-T
Variant summary
Our verdict is Benign. Variant got -11 ACMG points: 0P and 11B. BP4_StrongBP6_ModerateBP7BS2
The NM_001170331.2(LANCL3):c.504C>T(p.Asp168Asp) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000236 in 1,169,687 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 65 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_001170331.2 synonymous
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -11 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
LANCL3 | NM_001170331.2 | c.504C>T | p.Asp168Asp | synonymous_variant | Exon 1 of 5 | ENST00000378619.4 | NP_001163802.1 | |
LANCL3 | NM_198511.3 | c.504C>T | p.Asp168Asp | synonymous_variant | Exon 1 of 6 | NP_940913.1 | ||
LANCL3 | XM_011543904.3 | c.-467C>T | upstream_gene_variant | XP_011542206.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
LANCL3 | ENST00000378619.4 | c.504C>T | p.Asp168Asp | synonymous_variant | Exon 1 of 5 | 1 | NM_001170331.2 | ENSP00000367882.4 | ||
LANCL3 | ENST00000378621.7 | c.504C>T | p.Asp168Asp | synonymous_variant | Exon 1 of 6 | 1 | ENSP00000367885.3 | |||
ENSG00000250349 | ENST00000465127.1 | c.171+146374C>T | intron_variant | Intron 3 of 8 | 5 | ENSP00000417050.1 | ||||
LANCL3 | ENST00000614025.4 | c.504C>T | p.Asp168Asp | synonymous_variant | Exon 1 of 5 | 2 | ENSP00000479231.1 |
Frequencies
GnomAD3 genomes AF: 0.00115 AC: 129AN: 112164Hom.: 0 Cov.: 23 AF XY: 0.000729 AC XY: 25AN XY: 34316
GnomAD3 exomes AF: 0.000372 AC: 42AN: 113008Hom.: 0 AF XY: 0.000180 AC XY: 7AN XY: 38912
GnomAD4 exome AF: 0.000137 AC: 145AN: 1057468Hom.: 0 Cov.: 31 AF XY: 0.000113 AC XY: 39AN XY: 344968
GnomAD4 genome AF: 0.00117 AC: 131AN: 112219Hom.: 0 Cov.: 23 AF XY: 0.000756 AC XY: 26AN XY: 34381
ClinVar
Submissions by phenotype
not provided Benign:1
LANCL3: BP4, BP7 -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at