rs3803185
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_138450.6(ARL11):āc.442T>Cā(p.Cys148Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.469 in 1,587,468 control chromosomes in the GnomAD database, including 186,259 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_138450.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ARL11 | NM_138450.6 | c.442T>C | p.Cys148Arg | missense_variant | 2/2 | ENST00000282026.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ARL11 | ENST00000282026.2 | c.442T>C | p.Cys148Arg | missense_variant | 2/2 | 1 | NM_138450.6 | P1 | |
ARL11 | ENST00000490932.1 | n.159+790T>C | intron_variant, non_coding_transcript_variant | 2 |
Frequencies
GnomAD3 genomes AF: 0.369 AC: 56036AN: 151852Hom.: 12433 Cov.: 31
GnomAD3 exomes AF: 0.391 AC: 93390AN: 238702Hom.: 20466 AF XY: 0.394 AC XY: 50874AN XY: 129074
GnomAD4 exome AF: 0.479 AC: 688274AN: 1435498Hom.: 173815 Cov.: 57 AF XY: 0.474 AC XY: 336245AN XY: 709992
GnomAD4 genome AF: 0.369 AC: 56047AN: 151970Hom.: 12444 Cov.: 31 AF XY: 0.359 AC XY: 26669AN XY: 74262
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at