chr11-61904637-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_013401.4(RAB3IL1):c.808G>A(p.Ala270Thr) variant causes a missense change. The variant allele was found at a frequency of 0.0000105 in 1,611,732 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_013401.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RAB3IL1 | ENST00000394836.7 | c.808G>A | p.Ala270Thr | missense_variant | Exon 7 of 10 | 1 | NM_013401.4 | ENSP00000378313.2 | ||
RAB3IL1 | ENST00000301773.9 | c.730G>A | p.Ala244Thr | missense_variant | Exon 6 of 9 | 1 | ENSP00000301773.5 | |||
RAB3IL1 | ENST00000531922.2 | c.1093G>A | p.Ala365Thr | missense_variant | Exon 8 of 11 | 3 | ENSP00000435444.2 | |||
RAB3IL1 | ENST00000530888.1 | n.66G>A | non_coding_transcript_exon_variant | Exon 1 of 2 | 3 |
Frequencies
GnomAD3 genomes AF: 0.0000329 AC: 5AN: 152194Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000407 AC: 1AN: 245700Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 133234
GnomAD4 exome AF: 0.00000822 AC: 12AN: 1459538Hom.: 0 Cov.: 33 AF XY: 0.0000138 AC XY: 10AN XY: 725858
GnomAD4 genome AF: 0.0000329 AC: 5AN: 152194Hom.: 0 Cov.: 32 AF XY: 0.0000672 AC XY: 5AN XY: 74352
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.808G>A (p.A270T) alteration is located in exon 7 (coding exon 7) of the RAB3IL1 gene. This alteration results from a G to A substitution at nucleotide position 808, causing the alanine (A) at amino acid position 270 to be replaced by a threonine (T). 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