chr12-121781174-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_019034.3(RHOF):c.245G>A(p.Arg82Gln) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000297 in 1,614,206 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_019034.3 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 |
---|---|---|---|---|---|---|---|---|---|---|
RHOF | ENST00000267205.7 | c.245G>A | p.Arg82Gln | missense_variant | Exon 3 of 5 | 1 | NM_019034.3 | ENSP00000267205.2 | ||
TMEM120B | ENST00000449592.7 | c.*5452C>T | 3_prime_UTR_variant | Exon 12 of 12 | 1 | NM_001080825.2 | ENSP00000404991.2 |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152224Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000481 AC: 12AN: 249658Hom.: 0 AF XY: 0.0000370 AC XY: 5AN XY: 135102
GnomAD4 exome AF: 0.0000301 AC: 44AN: 1461864Hom.: 0 Cov.: 31 AF XY: 0.0000289 AC XY: 21AN XY: 727228
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152342Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74496
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.245G>A (p.R82Q) alteration is located in exon 3 (coding exon 3) of the RHOF gene. This alteration results from a G to A substitution at nucleotide position 245, causing the arginine (R) at amino acid position 82 to be replaced by a glutamine (Q). 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