rs6527396
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001031739.3(ASB9):c.282+888G>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.192 in 110,795 control chromosomes in the GnomAD database, including 2,346 homozygotes. There are 5,980 hemizygotes in GnomAD. 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
NM_001031739.3 intron
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 |
---|---|---|---|---|---|---|---|
ASB9 | NM_001031739.3 | c.282+888G>T | intron_variant | ENST00000380488.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ASB9 | ENST00000380488.9 | c.282+888G>T | intron_variant | 1 | NM_001031739.3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.192 AC: 21302AN: 110740Hom.: 2349 Cov.: 22 AF XY: 0.181 AC XY: 5958AN XY: 32986
GnomAD4 genome ? AF: 0.192 AC: 21311AN: 110795Hom.: 2346 Cov.: 22 AF XY: 0.181 AC XY: 5980AN XY: 33051
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at