19-7670203-G-C
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001385726.1(RETN):āc.223G>Cā(p.Val75Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.821 in 1,591,564 control chromosomes in the GnomAD database, including 538,155 homozygotes. In-silico tool predicts a benign outcome for this variant. 5/5 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001385726.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RETN | ENST00000221515.6 | c.197-16G>C | intron_variant | Intron 3 of 3 | 1 | NM_020415.4 | ENSP00000221515.1 | |||
RETN | ENST00000381324.2 | c.119-16G>C | intron_variant | Intron 1 of 1 | 1 | ENSP00000370725.2 | ||||
RETN | ENST00000629642.1 | c.119-16G>C | intron_variant | Intron 2 of 2 | 5 | ENSP00000485998.1 |
Frequencies
GnomAD3 genomes AF: 0.789 AC: 118016AN: 149622Hom.: 47059 Cov.: 23
GnomAD3 exomes AF: 0.818 AC: 178057AN: 217660Hom.: 73490 AF XY: 0.816 AC XY: 98640AN XY: 120822
GnomAD4 exome AF: 0.824 AC: 1188584AN: 1441832Hom.: 491070 Cov.: 40 AF XY: 0.824 AC XY: 591202AN XY: 717136
GnomAD4 genome AF: 0.789 AC: 118091AN: 149732Hom.: 47085 Cov.: 23 AF XY: 0.789 AC XY: 57655AN XY: 73034
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at