chr7-4801752-C-A
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2
The NM_018059.5(RADIL):c.2743G>T(p.Gly915Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000496 in 1,610,624 control chromosomes in the GnomAD database, including 6 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_018059.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RADIL | NM_018059.5 | c.2743G>T | p.Gly915Trp | missense_variant | 12/15 | ENST00000399583.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RADIL | ENST00000399583.4 | c.2743G>T | p.Gly915Trp | missense_variant | 12/15 | 5 | NM_018059.5 | P1 | |
RADIL | ENST00000472999.5 | n.767G>T | non_coding_transcript_exon_variant | 2/5 | 1 | ||||
RADIL | ENST00000473130.5 | n.1354G>T | non_coding_transcript_exon_variant | 8/11 | 2 | ||||
RADIL | ENST00000445392.5 | c.*1514G>T | 3_prime_UTR_variant, NMD_transcript_variant | 12/15 | 5 |
Frequencies
GnomAD3 genomes AF: 0.00219 AC: 333AN: 152206Hom.: 2 Cov.: 34
GnomAD3 exomes AF: 0.000443 AC: 103AN: 232282Hom.: 0 AF XY: 0.000382 AC XY: 49AN XY: 128260
GnomAD4 exome AF: 0.000319 AC: 465AN: 1458300Hom.: 4 Cov.: 37 AF XY: 0.000302 AC XY: 219AN XY: 725350
GnomAD4 genome AF: 0.00219 AC: 334AN: 152324Hom.: 2 Cov.: 34 AF XY: 0.00216 AC XY: 161AN XY: 74484
ClinVar
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Jun 01, 2022 | RADIL: BS2 - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at