rs10506547
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The XR_001749186.2(LOC105369812):n.500-5703A>G 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 0.763 in 152,132 control chromosomes in the GnomAD database, including 44,774 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_001749186.2 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 |
---|---|---|---|---|---|---|---|
LOC105369812 | XR_001749186.2 | n.500-5703A>G | intron_variant, non_coding_transcript_variant | ||||
LOC105369812 | XR_945043.3 | n.500-5703A>G | 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: 0.762 AC: 115897AN: 152014Hom.: 44716 Cov.: 32
GnomAD4 genome ? AF: 0.763 AC: 116017AN: 152132Hom.: 44774 Cov.: 32 AF XY: 0.755 AC XY: 56125AN XY: 74348
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at