chr17-39161308-A-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001143968.1(ARL5C):āc.299T>Cā(p.Leu100Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000214 in 1,399,556 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 16/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001143968.1 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ARL5C | NM_001143968.1 | c.299T>C | p.Leu100Pro | missense_variant | 4/6 | ENST00000269586.12 | |
ARL5C | XM_047435964.1 | c.299T>C | p.Leu100Pro | missense_variant | 4/6 | ||
ARL5C | XM_047435963.1 | c.170T>C | p.Leu57Pro | missense_variant | 3/4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ARL5C | ENST00000269586.12 | c.299T>C | p.Leu100Pro | missense_variant | 4/6 | 5 | NM_001143968.1 | P1 | |
ARL5C | ENST00000578912.1 | c.68T>C | p.Leu23Pro | missense_variant, NMD_transcript_variant | 2/4 | 4 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000214 AC: 3AN: 1399556Hom.: 0 Cov.: 32 AF XY: 0.00000435 AC XY: 3AN XY: 690286
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at