rs9386485
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000644129.1(ENSG00000284999):n.144+3846G>A 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 0.502 in 151,970 control chromosomes in the GnomAD database, including 19,366 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
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 |
---|---|---|---|---|---|---|---|
LOC105377923 | XR_001744275.2 | n.200+3846G>A | intron_variant, non_coding_transcript_variant | ||||
LOC105377923 | XR_001744274.2 | n.296+3846G>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000644129.1 | n.144+3846G>A | intron_variant, non_coding_transcript_variant | |||||||
ENST00000642235.1 | n.144+3846G>A | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.501 AC: 76147AN: 151850Hom.: 19331 Cov.: 32
GnomAD4 genome ? AF: 0.502 AC: 76234AN: 151970Hom.: 19366 Cov.: 32 AF XY: 0.501 AC XY: 37230AN XY: 74242
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at