6-32178588-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_006913.4(RNF5):c.77A>G(p.Glu26Gly) variant causes a missense change. The variant allele was found at a frequency of 0.00000822 in 1,459,190 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_006913.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RNF5 | NM_006913.4 | c.77A>G | p.Glu26Gly | missense_variant | Exon 1 of 6 | ENST00000375094.4 | NP_008844.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000492 AC: 12AN: 244094Hom.: 0 AF XY: 0.0000375 AC XY: 5AN XY: 133482
GnomAD4 exome AF: 0.00000822 AC: 12AN: 1459190Hom.: 0 Cov.: 32 AF XY: 0.00000689 AC XY: 5AN XY: 725970
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.77A>G (p.E26G) alteration is located in exon 1 (coding exon 1) of the RNF5 gene. This alteration results from a A to G substitution at nucleotide position 77, causing the glutamic acid (E) at amino acid position 26 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at