rs6643
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_016494.4(RNF181):c.352T>A(p.Tyr118Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 13/21 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 variant affecting the same amino acid position, but resulting in a different missense (i.e. Y118C) has been classified as Uncertain significance.
Frequency
Consequence
NM_016494.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RNF181 | NM_016494.4 | c.352T>A | p.Tyr118Asn | missense_variant | 4/5 | ENST00000306368.9 | |
RNF181 | XM_005264359.5 | c.393T>A | p.Ala131= | synonymous_variant | 3/4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RNF181 | ENST00000306368.9 | c.352T>A | p.Tyr118Asn | missense_variant | 4/5 | 1 | NM_016494.4 | P1 | |
RNF181 | ENST00000441634.5 | c.352T>A | p.Tyr118Asn | missense_variant | 4/4 | 2 | |||
RNF181 | ENST00000456023.1 | c.342T>A | p.Ala114= | synonymous_variant | 3/4 | 3 | |||
RNF181 | ENST00000443647.5 | c.*80T>A | 3_prime_UTR_variant, NMD_transcript_variant | 4/5 | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Cov.: 33
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at