chr17-30971395-T-C
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_032322.4(RNF135):c.322T>C(p.Ser108Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0425 in 1,522,404 control chromosomes in the GnomAD database, including 17,157 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 (★). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_032322.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RNF135 | NM_032322.4 | c.322T>C | p.Ser108Pro | missense_variant | 1/5 | ENST00000328381.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RNF135 | ENST00000328381.10 | c.322T>C | p.Ser108Pro | missense_variant | 1/5 | 1 | NM_032322.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.200 AC: 30338AN: 152032Hom.: 9551 Cov.: 33
GnomAD3 exomes AF: 0.0339 AC: 3896AN: 114962Hom.: 679 AF XY: 0.0303 AC XY: 1941AN XY: 63954
GnomAD4 exome AF: 0.0250 AC: 34240AN: 1370264Hom.: 7575 Cov.: 31 AF XY: 0.0233 AC XY: 15787AN XY: 676426
GnomAD4 genome ? AF: 0.200 AC: 30414AN: 152140Hom.: 9582 Cov.: 33 AF XY: 0.193 AC XY: 14382AN XY: 74384
ClinVar
Submissions by phenotype
not provided Benign:1
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