6-129578599-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_033515.3(ARHGAP18):c.1906C>T(p.Arg636Cys) variant causes a missense change. The variant allele was found at a frequency of 0.0000516 in 1,608,164 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R636H) has been classified as Uncertain significance.
Frequency
Consequence
NM_033515.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ARHGAP18 | NM_033515.3 | c.1906C>T | p.Arg636Cys | missense_variant | 15/15 | ENST00000368149.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ARHGAP18 | ENST00000368149.3 | c.1906C>T | p.Arg636Cys | missense_variant | 15/15 | 1 | NM_033515.3 | P1 | |
ARHGAP18 | ENST00000463225.1 | n.284C>T | non_coding_transcript_exon_variant | 4/4 | 3 | ||||
ARHGAP18 | ENST00000483367.5 | n.280C>T | non_coding_transcript_exon_variant | 4/4 | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.0000394 AC: 6AN: 152120Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000363 AC: 9AN: 247898Hom.: 0 AF XY: 0.0000522 AC XY: 7AN XY: 134066
GnomAD4 exome AF: 0.0000529 AC: 77AN: 1456044Hom.: 0 Cov.: 29 AF XY: 0.0000469 AC XY: 34AN XY: 724478
GnomAD4 genome ? AF: 0.0000394 AC: 6AN: 152120Hom.: 0 Cov.: 32 AF XY: 0.0000538 AC XY: 4AN XY: 74316
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jul 11, 2023 | The c.1906C>T (p.R636C) alteration is located in exon 15 (coding exon 15) of the ARHGAP18 gene. This alteration results from a C to T substitution at nucleotide position 1906, causing the arginine (R) at amino acid position 636 to be replaced by a cysteine (C). 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