chr15-40692191-T-C
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_ModerateBA1
The ENST00000526635.2(RAD51-AS1):n.300+2395A>G variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.267 in 152,098 control chromosomes in the GnomAD database, including 6,453 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
ENST00000526635.2 intron, non_coding_transcript
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 |
---|
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RAD51-AS1 | ENST00000526635.2 | n.300+2395A>G | intron_variant, non_coding_transcript_variant | 2 | |||||
RAD51-AS1 | ENST00000533146.5 | n.295+2395A>G | intron_variant, non_coding_transcript_variant | 3 | |||||
RAD51-AS1 | ENST00000650326.1 | n.292+2395A>G | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.268 AC: 40673AN: 151980Hom.: 6451 Cov.: 31
GnomAD4 genome AF: 0.267 AC: 40677AN: 152098Hom.: 6453 Cov.: 31 AF XY: 0.272 AC XY: 20233AN XY: 74348
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at