chr3-64900435-A-G
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NR_038264.1(ADAMTS9-AS2):n.897+33178A>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 0.754 in 152,214 control chromosomes in the GnomAD database, including 43,853 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
NR_038264.1 intron, non_coding_transcript
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ADAMTS9-AS2 | NR_038264.1 | n.897+33178A>G | intron_variant, non_coding_transcript_variant | ||||
LOC105377124 | XR_007095948.1 | n.263-23962T>C | intron_variant, non_coding_transcript_variant | ||||
LOC105377124 | XR_001740437.2 | n.263-5788T>C | intron_variant, non_coding_transcript_variant | ||||
LOC105377124 | XR_007095946.1 | n.263-5788T>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ADAMTS9-AS2 | ENST00000650103.1 | n.832+33178A>G | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.754 AC: 114708AN: 152096Hom.: 43803 Cov.: 33
GnomAD4 genome ? AF: 0.754 AC: 114819AN: 152214Hom.: 43853 Cov.: 33 AF XY: 0.750 AC XY: 55799AN XY: 74428
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at