14-64951121-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001308154.2(RAB15):c.277G>A(p.Glu93Lys) variant causes a missense change. The variant allele was found at a frequency of 0.00000685 in 1,460,446 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001308154.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RAB15 | ENST00000533601.7 | c.277G>A | p.Glu93Lys | missense_variant | Exon 4 of 7 | 1 | NM_001308154.2 | ENSP00000434103.3 | ||
CHURC1-FNTB | ENST00000549987.1 | c.246+25041C>T | intron_variant | Intron 3 of 13 | 2 | ENSP00000447121.2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000160 AC: 4AN: 249870Hom.: 0 AF XY: 0.0000296 AC XY: 4AN XY: 135202
GnomAD4 exome AF: 0.00000685 AC: 10AN: 1460446Hom.: 0 Cov.: 31 AF XY: 0.00000963 AC XY: 7AN XY: 726630
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.277G>A (p.E93K) alteration is located in exon 4 (coding exon 4) of the RAB15 gene. This alteration results from a G to A substitution at nucleotide position 277, causing the glutamic acid (E) at amino acid position 93 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