17-30971286-C-G
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The ENST00000328381.10(RNF135):āc.213C>Gā(p.His71Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0423 in 1,527,428 control chromosomes in the GnomAD database, including 17,184 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ā ). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
ENST00000328381.10 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RNF135 | NM_032322.4 | c.213C>G | p.His71Gln | missense_variant | 1/5 | ENST00000328381.10 | NP_115698.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RNF135 | ENST00000328381.10 | c.213C>G | p.His71Gln | missense_variant | 1/5 | 1 | NM_032322.4 | ENSP00000328340 | P1 |
Frequencies
GnomAD3 genomes AF: 0.200 AC: 30444AN: 152170Hom.: 9630 Cov.: 33
GnomAD3 exomes AF: 0.0312 AC: 3707AN: 118684Hom.: 617 AF XY: 0.0277 AC XY: 1824AN XY: 65744
GnomAD4 exome AF: 0.0248 AC: 34146AN: 1375150Hom.: 7520 Cov.: 31 AF XY: 0.0232 AC XY: 15750AN XY: 678724
GnomAD4 genome AF: 0.200 AC: 30522AN: 152278Hom.: 9664 Cov.: 33 AF XY: 0.194 AC XY: 14474AN XY: 74472
ClinVar
Submissions by phenotype
not provided Benign:2
Benign, criteria provided, single submitter | not provided | Breakthrough Genomics, Breakthrough Genomics | - | - - |
Benign, criteria provided, single submitter | clinical testing | GeneDx | Jul 21, 2018 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at