chr22-23160995-A-C
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BP4_Strong
The NM_004914.5(RAB36):c.736A>C(p.Ile246Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000398 in 1,609,786 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_004914.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RAB36 | NM_004914.5 | c.736A>C | p.Ile246Leu | missense_variant | 10/11 | ENST00000263116.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RAB36 | ENST00000263116.8 | c.736A>C | p.Ile246Leu | missense_variant | 10/11 | 1 | NM_004914.5 | P1 | |
RAB36 | ENST00000341989.9 | c.670A>C | p.Ile224Leu | missense_variant | 9/10 | 1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000263 AC: 4AN: 152132Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.0000967 AC: 24AN: 248308Hom.: 1 AF XY: 0.000112 AC XY: 15AN XY: 134338
GnomAD4 exome AF: 0.0000412 AC: 60AN: 1457536Hom.: 2 Cov.: 44 AF XY: 0.0000469 AC XY: 34AN XY: 724360
GnomAD4 genome ? AF: 0.0000263 AC: 4AN: 152250Hom.: 0 Cov.: 34 AF XY: 0.0000269 AC XY: 2AN XY: 74436
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 02, 2023 | The c.934A>C (p.I312L) alteration is located in exon 10 (coding exon 10) of the RAB36 gene. This alteration results from a A to C substitution at nucleotide position 934, causing the isoleucine (I) at amino acid position 312 to be replaced by a leucine (L). 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