20-50587838-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001290268.2(RIPOR3):c.2716G>T(p.Val906Leu) variant causes a missense change. The variant allele was found at a frequency of 0.00000479 in 1,461,808 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. V906M) 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 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RIPOR3 | NM_001290268.2 | c.2716G>T | p.Val906Leu | missense_variant | 21/22 | ENST00000327979.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RIPOR3 | ENST00000327979.8 | c.2716G>T | p.Val906Leu | missense_variant | 21/22 | 2 | NM_001290268.2 | ||
RIPOR3 | ENST00000045083.6 | c.2704G>T | p.Val902Leu | missense_variant | 21/22 | 5 | P1 | ||
RIPOR3 | ENST00000462842.1 | n.382G>T | non_coding_transcript_exon_variant | 2/3 | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD3 exomes AF: 0.00000401 AC: 1AN: 249350Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135366
GnomAD4 exome AF: 0.00000479 AC: 7AN: 1461808Hom.: 0 Cov.: 31 AF XY: 0.00000275 AC XY: 2AN XY: 727210
GnomAD4 genome ? Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 22, 2024 | The c.2704G>T (p.V902L) alteration is located in exon 21 (coding exon 20) of the FAM65C gene. This alteration results from a G to T substitution at nucleotide position 2704, causing the valine (V) at amino acid position 902 to be replaced by a leucine (L). 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