17-39160595-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001143968.1(ARL5C):c.487G>A(p.Glu163Lys) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000206 in 1,551,720 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001143968.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ARL5C | NM_001143968.1 | c.487G>A | p.Glu163Lys | missense_variant | Exon 5 of 6 | ENST00000269586.12 | NP_001137440.1 | |
ARL5C | XM_047435964.1 | c.487G>A | p.Glu163Lys | missense_variant | Exon 5 of 6 | XP_047291920.1 | ||
ARL5C | XM_047435963.1 | c.358G>A | p.Glu120Lys | missense_variant | Exon 4 of 4 | XP_047291919.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ARL5C | ENST00000269586.12 | c.487G>A | p.Glu163Lys | missense_variant | Exon 5 of 6 | 5 | NM_001143968.1 | ENSP00000269586.7 | ||
ARL5C | ENST00000578912.1 | n.256G>A | non_coding_transcript_exon_variant | Exon 3 of 4 | 4 | ENSP00000466347.1 |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152218Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000192 AC: 3AN: 156016Hom.: 0 AF XY: 0.0000121 AC XY: 1AN XY: 82666
GnomAD4 exome AF: 0.0000200 AC: 28AN: 1399502Hom.: 0 Cov.: 31 AF XY: 0.0000188 AC XY: 13AN XY: 690272
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152218Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74370
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.487G>A (p.E163K) alteration is located in exon 5 (coding exon 5) of the ARL5C gene. This alteration results from a G to A substitution at nucleotide position 487, causing the glutamic acid (E) at amino acid position 163 to be replaced by a lysine (K). 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