5-131972828-G-A
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_StrongBP6_Moderate
The NM_001009185.3(ACSL6):c.1234C>T(p.Arg412Cys) variant causes a missense change. The variant allele was found at a frequency of 0.000382 in 1,614,176 control chromosomes in the GnomAD database, including 3 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R412L) has been classified as Uncertain significance.
Frequency
Consequence
NM_001009185.3 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 |
---|---|---|---|---|---|---|---|
ACSL6 | NM_001009185.3 | c.1234C>T | p.Arg412Cys | missense_variant | 13/21 | ENST00000651883.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ACSL6 | ENST00000651883.2 | c.1234C>T | p.Arg412Cys | missense_variant | 13/21 | NM_001009185.3 | A1 |
Frequencies
GnomAD3 genomes ? AF: 0.00194 AC: 295AN: 152168Hom.: 1 Cov.: 32
GnomAD3 exomes AF: 0.000442 AC: 111AN: 251414Hom.: 0 AF XY: 0.000316 AC XY: 43AN XY: 135882
GnomAD4 exome AF: 0.000220 AC: 322AN: 1461890Hom.: 2 Cov.: 31 AF XY: 0.000194 AC XY: 141AN XY: 727248
GnomAD4 genome ? AF: 0.00194 AC: 295AN: 152286Hom.: 1 Cov.: 32 AF XY: 0.00189 AC XY: 141AN XY: 74464
ClinVar
Submissions by phenotype
ACSL6-related disorder Benign:1
Likely benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | May 16, 2022 | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at