rs10516441
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The XR_939020.3(LOC102723576):n.1285-2390C>T 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 0.0788 in 152,110 control chromosomes in the GnomAD database, including 1,676 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.1285-2390C>T | intron_variant, non_coding_transcript_variant | ||||
LOC102723576 | XR_001741777.2 | n.388-2390C>T | intron_variant, non_coding_transcript_variant | ||||
LOC102723576 | XR_427569.4 | n.1285-2390C>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|
Frequencies
GnomAD3 genomes ? AF: 0.0789 AC: 11990AN: 151992Hom.: 1678 Cov.: 32
GnomAD4 genome ? AF: 0.0788 AC: 11987AN: 152110Hom.: 1676 Cov.: 32 AF XY: 0.0883 AC XY: 6562AN XY: 74346
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at