chr7-4800257-A-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_018059.5(RADIL):āc.2896T>Gā(p.Ser966Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000551 in 1,560,986 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_018059.5 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 |
---|---|---|---|---|---|---|---|
RADIL | NM_018059.5 | c.2896T>G | p.Ser966Ala | missense_variant | 13/15 | ENST00000399583.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RADIL | ENST00000399583.4 | c.2896T>G | p.Ser966Ala | missense_variant | 13/15 | 5 | NM_018059.5 | P1 | |
RADIL | ENST00000472999.5 | n.920T>G | non_coding_transcript_exon_variant | 3/5 | 1 | ||||
RADIL | ENST00000473130.5 | n.1507T>G | non_coding_transcript_exon_variant | 9/11 | 2 | ||||
RADIL | ENST00000445392.5 | c.*1667T>G | 3_prime_UTR_variant, NMD_transcript_variant | 13/15 | 5 |
Frequencies
GnomAD3 genomes AF: 0.0000658 AC: 10AN: 151912Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000114 AC: 20AN: 175404Hom.: 0 AF XY: 0.000147 AC XY: 14AN XY: 94960
GnomAD4 exome AF: 0.0000539 AC: 76AN: 1409074Hom.: 0 Cov.: 32 AF XY: 0.0000559 AC XY: 39AN XY: 697394
GnomAD4 genome AF: 0.0000658 AC: 10AN: 151912Hom.: 0 Cov.: 33 AF XY: 0.0000809 AC XY: 6AN XY: 74184
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 01, 2022 | The c.2896T>G (p.S966A) alteration is located in exon 13 (coding exon 12) of the RADIL gene. This alteration results from a T to G substitution at nucleotide position 2896, causing the serine (S) at amino acid position 966 to be replaced by an alanine (A). 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