14-24267736-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_182836.3(RABGGTA):c.1277G>A(p.Arg426His) variant causes a missense change. The variant allele was found at a frequency of 0.00023 in 1,612,036 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_182836.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000204 AC: 31AN: 152178Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000120 AC: 30AN: 249060Hom.: 0 AF XY: 0.000133 AC XY: 18AN XY: 135104
GnomAD4 exome AF: 0.000232 AC: 339AN: 1459858Hom.: 0 Cov.: 31 AF XY: 0.000204 AC XY: 148AN XY: 726236
GnomAD4 genome AF: 0.000204 AC: 31AN: 152178Hom.: 0 Cov.: 32 AF XY: 0.000121 AC XY: 9AN XY: 74346
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1277G>A (p.R426H) alteration is located in exon 13 (coding exon 13) of the RABGGTA gene. This alteration results from a G to A substitution at nucleotide position 1277, causing the arginine (R) at amino acid position 426 to be replaced by a histidine (H). 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