14-39672210-T-C
Variant summary
Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000650911.1(ENSG00000258526):n.417+16402T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.554 in 151,886 control chromosomes in the GnomAD database, including 25,383 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
ENST00000650911.1 intron
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Benign. The variant received -12 ACMG points.
Transcripts
RefSeq
Ensembl
| Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt | 
|---|---|---|---|---|---|---|---|---|---|---|
| ENSG00000258526 | ENST00000650911.1 | n.417+16402T>C | intron_variant | Intron 3 of 5 | ||||||
| ENSG00000258526 | ENST00000651829.1 | n.1196+16402T>C | intron_variant | Intron 10 of 13 | ||||||
| ENSG00000258526 | ENST00000652126.1 | n.457+16402T>C | intron_variant | Intron 3 of 7 | 
Frequencies
GnomAD3 genomes  0.554  AC: 84114AN: 151764Hom.:  25378  Cov.: 32 show subpopulations 
GnomAD4 genome  0.554  AC: 84133AN: 151886Hom.:  25383  Cov.: 32 AF XY:  0.549  AC XY: 40766AN XY: 74218 show subpopulations 
Age Distribution
ClinVar
Not reported inComputational scores
Source: 
Splicing
 Find out detailed SpliceAI scores and Pangolin per-transcript scores at