chr19-38870129-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001195833.2(RINL):c.1156G>A(p.Gly386Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000985 in 1,420,790 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 11/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001195833.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RINL | NM_001195833.2 | c.1156G>A | p.Gly386Arg | missense_variant | 9/12 | ENST00000591812.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RINL | ENST00000591812.2 | c.1156G>A | p.Gly386Arg | missense_variant | 9/12 | 2 | NM_001195833.2 | P2 | |
RINL | ENST00000598904.5 | c.814G>A | p.Gly272Arg | missense_variant | 8/11 | 5 | A2 | ||
RINL | ENST00000589111.5 | n.1623G>A | non_coding_transcript_exon_variant | 6/9 | 2 | ||||
ENST00000593830.1 | upstream_gene_variant | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.0000131 AC: 2AN: 152200Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000366 AC: 1AN: 27358Hom.: 0 AF XY: 0.0000605 AC XY: 1AN XY: 16534
GnomAD4 exome AF: 0.00000946 AC: 12AN: 1268482Hom.: 0 Cov.: 34 AF XY: 0.0000113 AC XY: 7AN XY: 621576
GnomAD4 genome ? AF: 0.0000131 AC: 2AN: 152308Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74470
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 03, 2024 | The c.1156G>A (p.G386R) alteration is located in exon 9 (coding exon 8) of the RINL gene. This alteration results from a G to A substitution at nucleotide position 1156, causing the glycine (G) at amino acid position 386 to be replaced by an arginine (R). 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