rs10518429
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBS1BS2
The XR_001741813.2(LOC105377406):n.2964-15859C>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 0.0249 in 152,118 control chromosomes in the GnomAD database, including 70 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_001741813.2 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 |
---|---|---|---|---|---|---|---|
LOC105377406 | XR_001741813.2 | n.2964-15859C>T | intron_variant, non_coding_transcript_variant | ||||
LOC105377406 | XR_001741814.2 | n.241-15862C>T | intron_variant, non_coding_transcript_variant | ||||
LOC105377406 | XR_001741821.2 | n.199-15859C>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
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Frequencies
GnomAD3 genomes ? AF: 0.0249 AC: 3792AN: 152000Hom.: 70 Cov.: 32
GnomAD4 genome ? AF: 0.0249 AC: 3792AN: 152118Hom.: 70 Cov.: 32 AF XY: 0.0256 AC XY: 1907AN XY: 74386
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at