chr17-19413058-C-G
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_007148.5(RNF112):c.502C>G(p.Pro168Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000149 in 1,613,260 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_007148.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RNF112 | ENST00000461366.2 | c.502C>G | p.Pro168Ala | missense_variant | Exon 4 of 14 | 1 | NM_007148.5 | ENSP00000454919.1 | ||
RNF112 | ENST00000574149.6 | n.733C>G | non_coding_transcript_exon_variant | Exon 4 of 4 | 2 | |||||
ENSG00000265126 | ENST00000579897.1 | n.61G>C | non_coding_transcript_exon_variant | Exon 1 of 2 | 5 | |||||
RNF112 | ENST00000580109.1 | n.429-222C>G | intron_variant | Intron 2 of 2 | 4 |
Frequencies
GnomAD3 genomes AF: 0.000138 AC: 21AN: 152164Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000158 AC: 39AN: 246496Hom.: 0 AF XY: 0.000164 AC XY: 22AN XY: 134192
GnomAD4 exome AF: 0.000150 AC: 219AN: 1460978Hom.: 2 Cov.: 33 AF XY: 0.000151 AC XY: 110AN XY: 726762
GnomAD4 genome AF: 0.000138 AC: 21AN: 152282Hom.: 0 Cov.: 32 AF XY: 0.000134 AC XY: 10AN XY: 74452
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.502C>G (p.P168A) alteration is located in exon 4 (coding exon 4) of the RNF112 gene. This alteration results from a C to G substitution at nucleotide position 502, causing the proline (P) at amino acid position 168 to be replaced by an alanine (A). 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