11-110136724-G-A
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 2P and 6B. PM2BP4_StrongBP6_Moderate
The NM_033390.2(ZC3H12C):c.83G>A(p.Arg28His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000248 in 1,613,830 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 Likely benign (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R28C) has been classified as Uncertain significance.
Frequency
Consequence
NM_033390.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ZC3H12C | NM_033390.2 | c.83G>A | p.Arg28His | missense_variant | 2/6 | ENST00000278590.8 | |
ZC3H12C | NM_001411037.1 | c.86G>A | p.Arg29His | missense_variant | 2/6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZC3H12C | ENST00000278590.8 | c.83G>A | p.Arg28His | missense_variant | 2/6 | 2 | NM_033390.2 | ||
ZC3H12C | ENST00000528673.5 | c.86G>A | p.Arg29His | missense_variant | 2/6 | 2 | |||
ZC3H12C | ENST00000453089.2 | c.-11G>A | 5_prime_UTR_variant | 1/5 | 2 | P1 | |||
RDX | ENST00000645527.1 | c.*251-4994C>T | intron_variant, NMD_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.0000526 AC: 8AN: 152138Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000161 AC: 4AN: 249006Hom.: 0 AF XY: 0.0000222 AC XY: 3AN XY: 135116
GnomAD4 exome AF: 0.0000219 AC: 32AN: 1461692Hom.: 0 Cov.: 31 AF XY: 0.0000303 AC XY: 22AN XY: 727126
GnomAD4 genome ? AF: 0.0000526 AC: 8AN: 152138Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74320
ClinVar
Submissions by phenotype
not specified Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 03, 2022 | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at