rs2032350
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The XR_939020.3(LOC102723576):n.1285-9285G>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 0.248 in 151,768 control chromosomes in the GnomAD database, including 5,444 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
XR_939020.3 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 |
---|---|---|---|---|---|---|---|
LOC102723576 | XR_939020.3 | n.1285-9285G>A | intron_variant, non_coding_transcript_variant | ||||
LOC102723576 | XR_001741777.2 | n.388-9285G>A | intron_variant, non_coding_transcript_variant | ||||
LOC102723576 | XR_427569.4 | n.1285-9285G>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|
Frequencies
GnomAD3 genomes ? AF: 0.248 AC: 37622AN: 151650Hom.: 5438 Cov.: 32
GnomAD4 genome ? AF: 0.248 AC: 37652AN: 151768Hom.: 5444 Cov.: 32 AF XY: 0.255 AC XY: 18928AN XY: 74170
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at