rs10515002
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000666197.1(ENSG00000251391):n.382+4823G>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 0.102 in 152,182 control chromosomes in the GnomAD database, including 2,357 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 |
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Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000666197.1 | n.382+4823G>A | intron_variant, non_coding_transcript_variant | |||||||
ENST00000663200.1 | n.371+9379G>A | intron_variant, non_coding_transcript_variant | |||||||
ENST00000665668.1 | n.394+4865G>A | intron_variant, non_coding_transcript_variant | |||||||
ENST00000668388.1 | n.393-1015G>A | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.101 AC: 15418AN: 152064Hom.: 2348 Cov.: 32
GnomAD4 genome ? AF: 0.102 AC: 15466AN: 152182Hom.: 2357 Cov.: 32 AF XY: 0.0978 AC XY: 7275AN XY: 74408
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at