chr8-42850871-C-T
Variant summary
Our verdict is Benign. Variant got -13 ACMG points: 0P and 13B. BP4_StrongBP6BS1BS2
The ENST00000319104.7(RNF170):c.523G>A(p.Asp175Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00303 in 1,551,614 control chromosomes in the GnomAD database, including 52 homozygotes. In-silico tool predicts a benign outcome for this variant. 11/13 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (no stars).
Frequency
Consequence
ENST00000319104.7 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -13 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RNF170 | NM_001160224.2 | c.523G>A | p.Asp175Asn | missense_variant | 6/6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RNF170 | ENST00000319104.7 | c.523G>A | p.Asp175Asn | missense_variant | 6/6 | 1 |
Frequencies
GnomAD3 genomes AF: 0.0104 AC: 1585AN: 152094Hom.: 27 Cov.: 31
GnomAD3 exomes AF: 0.00404 AC: 622AN: 154128Hom.: 5 AF XY: 0.00351 AC XY: 287AN XY: 81872
GnomAD4 exome AF: 0.00222 AC: 3112AN: 1399402Hom.: 25 Cov.: 31 AF XY: 0.00207 AC XY: 1430AN XY: 690202
GnomAD4 genome AF: 0.0104 AC: 1583AN: 152212Hom.: 27 Cov.: 31 AF XY: 0.00958 AC XY: 713AN XY: 74432
ClinVar
Submissions by phenotype
not specified Benign:2
Benign, no assertion criteria provided | clinical testing | Clinical Genetics, Academic Medical Center | - | - - |
Benign, no assertion criteria provided | clinical testing | Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center | - | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at