19-38870969-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001195833.2(RINL):c.625G>T(p.Gly209Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000078 in 1,603,452 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/19 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.625G>T | p.Gly209Trp | missense_variant | 8/12 | ENST00000591812.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RINL | ENST00000591812.2 | c.625G>T | p.Gly209Trp | missense_variant | 8/12 | 2 | NM_001195833.2 | P2 | |
ENST00000593830.1 | n.291+155C>A | intron_variant, non_coding_transcript_variant | 3 | ||||||
RINL | ENST00000598904.5 | c.283G>T | p.Gly95Trp | missense_variant | 7/11 | 5 | A2 | ||
RINL | ENST00000589111.5 | n.1092G>T | non_coding_transcript_exon_variant | 5/9 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.0000854 AC: 13AN: 152176Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000919 AC: 22AN: 239362Hom.: 0 AF XY: 0.0000843 AC XY: 11AN XY: 130554
GnomAD4 exome AF: 0.0000772 AC: 112AN: 1451158Hom.: 0 Cov.: 33 AF XY: 0.0000706 AC XY: 51AN XY: 722132
GnomAD4 genome ? AF: 0.0000854 AC: 13AN: 152294Hom.: 0 Cov.: 32 AF XY: 0.0000806 AC XY: 6AN XY: 74468
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jul 14, 2021 | The c.625G>T (p.G209W) alteration is located in exon 8 (coding exon 7) of the RINL gene. This alteration results from a G to T substitution at nucleotide position 625, causing the glycine (G) at amino acid position 209 to be replaced by a tryptophan (W). 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