11-212610-C-T
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The ENST00000325207.9(RIC8A):c.1079C>T(p.Pro360Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000149 in 1,613,798 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/17 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
ENST00000325207.9 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RIC8A | NM_001286134.2 | c.1066-5C>T | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | ENST00000526104.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RIC8A | ENST00000526104.6 | c.1066-5C>T | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | 1 | NM_001286134.2 | P4 |
Frequencies
GnomAD3 genomes AF: 0.0000985 AC: 15AN: 152250Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000160 AC: 4AN: 250018Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 135216
GnomAD4 exome AF: 0.00000616 AC: 9AN: 1461548Hom.: 0 Cov.: 32 AF XY: 0.00000550 AC XY: 4AN XY: 727052
GnomAD4 genome AF: 0.0000985 AC: 15AN: 152250Hom.: 0 Cov.: 33 AF XY: 0.000134 AC XY: 10AN XY: 74392
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | May 31, 2022 | The c.1079C>T (p.P360L) alteration is located in exon 7 (coding exon 7) of the RIC8A gene. This alteration results from a C to T substitution at nucleotide position 1079, causing the proline (P) at amino acid position 360 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