chr3-8902415-T-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_020165.4(RAD18):c.1133A>T(p.Asp378Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000129 in 1,609,392 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_020165.4 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 |
---|---|---|---|---|---|---|---|
RAD18 | NM_020165.4 | c.1133A>T | p.Asp378Val | missense_variant | 10/13 | ENST00000264926.7 | |
RAD18 | XM_017006873.2 | c.875A>T | p.Asp292Val | missense_variant | 8/11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RAD18 | ENST00000264926.7 | c.1133A>T | p.Asp378Val | missense_variant | 10/13 | 1 | NM_020165.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000722 AC: 11AN: 152262Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000443 AC: 11AN: 248090Hom.: 0 AF XY: 0.0000372 AC XY: 5AN XY: 134230
GnomAD4 exome AF: 0.000135 AC: 196AN: 1457130Hom.: 0 Cov.: 30 AF XY: 0.000141 AC XY: 102AN XY: 725066
GnomAD4 genome ? AF: 0.0000722 AC: 11AN: 152262Hom.: 0 Cov.: 32 AF XY: 0.0000806 AC XY: 6AN XY: 74396
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 02, 2021 | The c.1133A>T (p.D378V) alteration is located in exon 10 (coding exon 10) of the RAD18 gene. This alteration results from a A to T substitution at nucleotide position 1133, causing the aspartic acid (D) at amino acid position 378 to be replaced by a valine (V). 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