chr13-98176623-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_178861.5(RNF113B):c.614G>A(p.Cys205Tyr) variant causes a missense change. The variant allele was found at a frequency of 0.0000328 in 1,614,244 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_178861.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RNF113B | NM_178861.5 | c.614G>A | p.Cys205Tyr | missense_variant | Exon 1 of 2 | ENST00000267291.7 | NP_849192.1 | |
FARP1 | NM_005766.4 | c.-24+33131C>T | intron_variant | Intron 1 of 26 | ENST00000319562.11 | NP_005757.1 | ||
FARP1 | NM_001286839.2 | c.-24+33846C>T | intron_variant | Intron 1 of 27 | NP_001273768.1 | |||
FARP1 | NM_001001715.4 | c.-24+33131C>T | intron_variant | Intron 1 of 2 | NP_001001715.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RNF113B | ENST00000267291.7 | c.614G>A | p.Cys205Tyr | missense_variant | Exon 1 of 2 | 1 | NM_178861.5 | ENSP00000267291.6 | ||
FARP1 | ENST00000319562.11 | c.-24+33131C>T | intron_variant | Intron 1 of 26 | 1 | NM_005766.4 | ENSP00000322926.6 |
Frequencies
GnomAD3 genomes AF: 0.000151 AC: 23AN: 152232Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000756 AC: 19AN: 251440Hom.: 0 AF XY: 0.0000515 AC XY: 7AN XY: 135898
GnomAD4 exome AF: 0.0000205 AC: 30AN: 1461894Hom.: 0 Cov.: 32 AF XY: 0.0000206 AC XY: 15AN XY: 727248
GnomAD4 genome AF: 0.000151 AC: 23AN: 152350Hom.: 0 Cov.: 32 AF XY: 0.000148 AC XY: 11AN XY: 74500
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.614G>A (p.C205Y) alteration is located in exon 1 (coding exon 1) of the RNF113B gene. This alteration results from a G to A substitution at nucleotide position 614, causing the cysteine (C) at amino acid position 205 to be replaced by a tyrosine (Y). 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