chr12-121779532-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_019034.3(RHOF):c.602G>A(p.Arg201Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000124 in 1,612,904 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R201W) has been classified 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 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RHOF | ENST00000267205.7 | c.602G>A | p.Arg201Gln | missense_variant | Exon 5 of 5 | 1 | NM_019034.3 | ENSP00000267205.2 | ||
TMEM120B | ENST00000449592.7 | c.*3810C>T | 3_prime_UTR_variant | Exon 12 of 12 | 1 | NM_001080825.2 | ENSP00000404991.2 |
Frequencies
GnomAD3 genomes AF: 0.0000394 AC: 6AN: 152236Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000121 AC: 3AN: 248290Hom.: 0 AF XY: 0.0000149 AC XY: 2AN XY: 134498
GnomAD4 exome AF: 0.00000890 AC: 13AN: 1460550Hom.: 0 Cov.: 30 AF XY: 0.00000963 AC XY: 7AN XY: 726636
GnomAD4 genome AF: 0.0000459 AC: 7AN: 152354Hom.: 0 Cov.: 32 AF XY: 0.0000403 AC XY: 3AN XY: 74502
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.602G>A (p.R201Q) alteration is located in exon 5 (coding exon 5) of the RHOF gene. This alteration results from a G to A substitution at nucleotide position 602, causing the arginine (R) at amino acid position 201 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