chr6-13632432-C-T
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4BS2
The NM_005493.3(RANBP9):c.1885G>A(p.Ala629Thr) variant causes a missense change. The variant allele was found at a frequency of 0.00000342 in 1,461,786 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_005493.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RANBP9 | NM_005493.3 | c.1885G>A | p.Ala629Thr | missense_variant | Exon 12 of 14 | ENST00000011619.6 | NP_005484.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RANBP9 | ENST00000011619.6 | c.1885G>A | p.Ala629Thr | missense_variant | Exon 12 of 14 | 1 | NM_005493.3 | ENSP00000011619.3 | ||
RANBP9 | ENST00000469916.1 | n.324G>A | non_coding_transcript_exon_variant | Exon 1 of 3 | 2 | |||||
NOL7 | ENST00000474485.1 | n.613C>T | non_coding_transcript_exon_variant | Exon 9 of 9 | 3 |
Frequencies
GnomAD3 genomes Cov.: 29
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251312Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135820
GnomAD4 exome AF: 0.00000342 AC: 5AN: 1461786Hom.: 0 Cov.: 30 AF XY: 0.00000138 AC XY: 1AN XY: 727198
GnomAD4 genome Cov.: 29
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1885G>A (p.A629T) alteration is located in exon 12 (coding exon 12) of the RANBP9 gene. This alteration results from a G to A substitution at nucleotide position 1885, causing the alanine (A) at amino acid position 629 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