5-34908815-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_002853.4(RAD1):c.799G>C(p.Val267Leu) variant causes a missense change. The variant allele was found at a frequency of 0.0000397 in 1,612,324 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_002853.4 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RAD1 | NM_002853.4 | c.799G>C | p.Val267Leu | missense_variant | Exon 6 of 6 | ENST00000382038.7 | NP_002844.1 | |
RAD1 | NR_026591.2 | n.848G>C | non_coding_transcript_exon_variant | Exon 5 of 5 | ||||
TTC23L | NR_169875.1 | n.974-9549C>G | intron_variant | Intron 7 of 15 | ||||
TTC23L | NR_169876.1 | n.1048-9549C>G | intron_variant | Intron 7 of 15 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000657 AC: 10AN: 152190Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000840 AC: 21AN: 250102Hom.: 0 AF XY: 0.0000739 AC XY: 10AN XY: 135254
GnomAD4 exome AF: 0.0000370 AC: 54AN: 1460134Hom.: 1 Cov.: 31 AF XY: 0.0000399 AC XY: 29AN XY: 726434
GnomAD4 genome AF: 0.0000657 AC: 10AN: 152190Hom.: 0 Cov.: 32 AF XY: 0.0000673 AC XY: 5AN XY: 74336
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.799G>C (p.V267L) alteration is located in exon 6 (coding exon 5) of the RAD1 gene. This alteration results from a G to C substitution at nucleotide position 799, causing the valine (V) at amino acid position 267 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
RAD1-related disorder Uncertain:1
The RAD1 c.799G>C variant is predicted to result in the amino acid substitution p.Val267Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.057% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/5-34908920-C-G). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at