19-41958860-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_006423.3(RABAC1):c.145G>T(p.Val49Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000249 in 1,606,800 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_006423.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RABAC1 | ENST00000222008.11 | c.145G>T | p.Val49Leu | missense_variant | Exon 2 of 5 | 1 | NM_006423.3 | ENSP00000222008.5 | ||
ENSG00000285505 | ENST00000644613.1 | n.*69G>T | non_coding_transcript_exon_variant | Exon 23 of 25 | ENSP00000494711.1 | |||||
ENSG00000285505 | ENST00000644613.1 | n.*69G>T | 3_prime_UTR_variant | Exon 23 of 25 | ENSP00000494711.1 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152214Hom.: 0 Cov.: 33
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1454586Hom.: 0 Cov.: 33 AF XY: 0.00000138 AC XY: 1AN XY: 723898
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152214Hom.: 0 Cov.: 33 AF XY: 0.0000269 AC XY: 2AN XY: 74362
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.145G>T (p.V49L) alteration is located in exon 2 (coding exon 2) of the RABAC1 gene. This alteration results from a G to T substitution at nucleotide position 145, causing the valine (V) at amino acid position 49 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