chr20-50593191-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001290268.2(RIPOR3):c.2218C>T(p.Arg740Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000447 in 1,611,860 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R740H) has been classified as Uncertain significance.
Frequency
Consequence
NM_001290268.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RIPOR3 | NM_001290268.2 | c.2218C>T | p.Arg740Cys | missense_variant | 18/22 | ENST00000327979.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RIPOR3 | ENST00000327979.8 | c.2218C>T | p.Arg740Cys | missense_variant | 18/22 | 2 | NM_001290268.2 | ||
RIPOR3 | ENST00000045083.6 | c.2206C>T | p.Arg736Cys | missense_variant | 18/22 | 5 | P1 | ||
RIPOR3 | ENST00000482129.1 | n.646C>T | non_coding_transcript_exon_variant | 2/3 | 3 | ||||
RIPOR3 | ENST00000488529.5 | n.541C>T | non_coding_transcript_exon_variant | 5/7 | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.0000328 AC: 5AN: 152228Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000893 AC: 22AN: 246418Hom.: 0 AF XY: 0.000112 AC XY: 15AN XY: 133870
GnomAD4 exome AF: 0.0000459 AC: 67AN: 1459632Hom.: 0 Cov.: 31 AF XY: 0.0000551 AC XY: 40AN XY: 726152
GnomAD4 genome ? AF: 0.0000328 AC: 5AN: 152228Hom.: 0 Cov.: 32 AF XY: 0.0000538 AC XY: 4AN XY: 74376
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Feb 28, 2024 | The c.2206C>T (p.R736C) alteration is located in exon 18 (coding exon 17) of the FAM65C gene. This alteration results from a C to T substitution at nucleotide position 2206, causing the arginine (R) at amino acid position 736 to be replaced by a cysteine (C). 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