17-19413352-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_007148.5(RNF112):c.661C>T(p.Leu221Phe) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000638 in 1,613,282 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_007148.5 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 |
---|---|---|---|---|---|---|---|---|---|---|
RNF112 | ENST00000461366.2 | c.661C>T | p.Leu221Phe | missense_variant | Exon 5 of 14 | 1 | NM_007148.5 | ENSP00000454919.1 | ||
RNF112 | ENST00000574149.6 | n.1027C>T | non_coding_transcript_exon_variant | Exon 4 of 4 | 2 | |||||
RNF112 | ENST00000580109.1 | n.501C>T | non_coding_transcript_exon_variant | Exon 3 of 3 | 4 | |||||
ENSG00000265126 | ENST00000579897.1 | n.-234G>A | upstream_gene_variant | 5 |
Frequencies
GnomAD3 genomes AF: 0.000395 AC: 60AN: 152082Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000768 AC: 19AN: 247372Hom.: 0 AF XY: 0.0000372 AC XY: 5AN XY: 134566
GnomAD4 exome AF: 0.0000294 AC: 43AN: 1461082Hom.: 0 Cov.: 33 AF XY: 0.0000261 AC XY: 19AN XY: 726774
GnomAD4 genome AF: 0.000394 AC: 60AN: 152200Hom.: 0 Cov.: 32 AF XY: 0.000282 AC XY: 21AN XY: 74426
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.661C>T (p.L221F) alteration is located in exon 5 (coding exon 5) of the RNF112 gene. This alteration results from a C to T substitution at nucleotide position 661, causing the leucine (L) at amino acid position 221 to be replaced by a phenylalanine (F). 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