rs10518517
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000504050.5(ENSG00000248491):n.369-21564T>C 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 0.0252 in 152,284 control chromosomes in the GnomAD database, including 324 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 |
---|---|---|---|---|---|---|---|
LOC102724210 | XR_001741824.3 | n.372-21564T>C | intron_variant, non_coding_transcript_variant | ||||
LOC102724210 | XR_001741825.2 | n.124-21564T>C | intron_variant, non_coding_transcript_variant | ||||
LOC102724210 | XR_939184.4 | n.124-109283T>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000504050.5 | n.369-21564T>C | intron_variant, non_coding_transcript_variant | 5 | ||||||
ENST00000661442.1 | n.364-21564T>C | intron_variant, non_coding_transcript_variant | |||||||
ENST00000667124.1 | n.237-21564T>C | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.0252 AC: 3836AN: 152166Hom.: 327 Cov.: 33
GnomAD4 genome ? AF: 0.0252 AC: 3834AN: 152284Hom.: 324 Cov.: 33 AF XY: 0.0285 AC XY: 2124AN XY: 74466
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at