rs16993280
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000686504.1(ENSG00000289120):n.208+3395C>T 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 0.146 in 151,166 control chromosomes in the GnomAD database, including 1,871 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 |
---|---|---|---|---|---|---|---|---|---|
ENST00000686504.1 | n.208+3395C>T | intron_variant, non_coding_transcript_variant | |||||||
ENST00000702002.1 | n.207+3395C>T | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.146 AC: 22001AN: 150882Hom.: 1871 Cov.: 31
GnomAD4 exome AF: 0.111 AC: 20AN: 180Hom.: 1 AF XY: 0.0956 AC XY: 13AN XY: 136
GnomAD4 genome AF: 0.146 AC: 22006AN: 150986Hom.: 1870 Cov.: 31 AF XY: 0.142 AC XY: 10462AN XY: 73704
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at