rs4516035
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000622535.1(ENSG00000278385):n.922T>C variant causes a non coding transcript exon change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.305 in 152,162 control chromosomes in the GnomAD database, including 9,081 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 |
---|
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000622535.1 | n.922T>C | non_coding_transcript_exon_variant | 1/1 | ||||||
VDR | ENST00000395324.6 | c.-83-23269A>G | intron_variant | 5 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.305 AC: 46411AN: 152036Hom.: 9077 Cov.: 33
GnomAD4 exome AF: 0.500 AC: 4AN: 8Hom.: 2 Cov.: 0 AF XY: 0.500 AC XY: 4AN XY: 8
GnomAD4 genome ? AF: 0.305 AC: 46427AN: 152154Hom.: 9079 Cov.: 33 AF XY: 0.305 AC XY: 22689AN XY: 74394
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at