19-10317588-C-T
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_133452.3(RAVER1):c.2086G>A(p.Gly696Ser) variant causes a missense change. The variant allele was found at a frequency of 0.0000547 in 1,609,268 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 (★).
Frequency
Consequence
NM_133452.3 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RAVER1 | NM_133452.3 | c.2086G>A | p.Gly696Ser | missense_variant | Exon 13 of 13 | ENST00000617231.5 | NP_597709.3 | |
RAVER1 | NM_001366174.1 | c.2011G>A | p.Gly671Ser | missense_variant | Exon 14 of 14 | NP_001353103.1 | ||
RAVER1 | XM_047438143.1 | c.1069G>A | p.Gly357Ser | missense_variant | Exon 9 of 9 | XP_047294099.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RAVER1 | ENST00000617231.5 | c.2086G>A | p.Gly696Ser | missense_variant | Exon 13 of 13 | 5 | NM_133452.3 | ENSP00000482277.1 | ||
ENSG00000267303 | ENST00000586529.1 | n.340G>A | non_coding_transcript_exon_variant | Exon 5 of 8 | 5 | ENSP00000467814.1 | ||||
RAVER1 | ENST00000592208.5 | n.3320G>A | non_coding_transcript_exon_variant | Exon 10 of 10 | 1 |
Frequencies
GnomAD3 genomes AF: 0.000171 AC: 26AN: 152080Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000919 AC: 22AN: 239480Hom.: 0 AF XY: 0.0000763 AC XY: 10AN XY: 131098
GnomAD4 exome AF: 0.0000425 AC: 62AN: 1457188Hom.: 0 Cov.: 32 AF XY: 0.0000345 AC XY: 25AN XY: 724902
GnomAD4 genome AF: 0.000171 AC: 26AN: 152080Hom.: 0 Cov.: 32 AF XY: 0.000215 AC XY: 16AN XY: 74306
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2137G>A (p.G713S) alteration is located in exon 13 (coding exon 13) of the RAVER1 gene. This alteration results from a G to A substitution at nucleotide position 2137, causing the glycine (G) at amino acid position 713 to be replaced by a serine (S). 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