rs2008514
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000469929.1(ENSG00000240634):n.390C>T 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 0.35 in 305,744 control chromosomes in the GnomAD database, including 19,823 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 |
---|---|---|---|---|---|---|---|---|---|
ENST00000469929.1 | n.390C>T | non_coding_transcript_exon_variant | 1/1 | ||||||
ENST00000507031.2 | n.271-1852G>A | intron_variant, non_coding_transcript_variant | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.345 AC: 52344AN: 151644Hom.: 9702 Cov.: 32
GnomAD4 exome AF: 0.355 AC: 54642AN: 153984Hom.: 10090 Cov.: 0 AF XY: 0.351 AC XY: 28992AN XY: 82482
GnomAD4 genome ? AF: 0.346 AC: 52438AN: 151760Hom.: 9733 Cov.: 32 AF XY: 0.343 AC XY: 25460AN XY: 74128
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at