rs779895655
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_002853.4(RAD1):c.518C>T(p.Thr173Met) variant causes a missense change. The variant allele was found at a frequency of 0.0000434 in 1,613,992 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. T173R) has been classified as Uncertain significance.
Frequency
Consequence
NM_002853.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RAD1 | NM_002853.4 | c.518C>T | p.Thr173Met | missense_variant | Exon 4 of 6 | ENST00000382038.7 | NP_002844.1 | |
RAD1 | NR_026591.2 | n.567C>T | non_coding_transcript_exon_variant | Exon 3 of 5 | ||||
TTC23L | NR_169875.1 | n.974-6762G>A | intron_variant | Intron 7 of 15 | ||||
TTC23L | NR_169876.1 | n.1048-6762G>A | intron_variant | Intron 7 of 15 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152162Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000636 AC: 16AN: 251448Hom.: 0 AF XY: 0.0000883 AC XY: 12AN XY: 135894
GnomAD4 exome AF: 0.0000472 AC: 69AN: 1461830Hom.: 1 Cov.: 31 AF XY: 0.0000605 AC XY: 44AN XY: 727218
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152162Hom.: 0 Cov.: 33 AF XY: 0.0000135 AC XY: 1AN XY: 74326
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at