4-153710411-T-C
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_173662.4(RNF175):c.945A>G(p.Ile315Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.197 in 1,573,060 control chromosomes in the GnomAD database, including 32,494 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. I315T) has been classified as Uncertain significance.
Frequency
Consequence
NM_173662.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RNF175 | NM_173662.4 | c.945A>G | p.Ile315Met | missense_variant | 9/9 | ENST00000347063.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RNF175 | ENST00000347063.9 | c.945A>G | p.Ile315Met | missense_variant | 9/9 | 1 | NM_173662.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.161 AC: 24458AN: 152124Hom.: 2503 Cov.: 33
GnomAD3 exomes AF: 0.188 AC: 36417AN: 194166Hom.: 3937 AF XY: 0.189 AC XY: 19525AN XY: 103132
GnomAD4 exome AF: 0.201 AC: 285202AN: 1420818Hom.: 29988 Cov.: 31 AF XY: 0.200 AC XY: 140703AN XY: 702796
GnomAD4 genome ? AF: 0.161 AC: 24456AN: 152242Hom.: 2506 Cov.: 33 AF XY: 0.161 AC XY: 11995AN XY: 74432
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at