rs7814403
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000656455.1(ENSG00000253363):n.484+99885A>G 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 0.449 in 152,040 control chromosomes in the GnomAD database, including 15,355 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 | Protein | UniProt |
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Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ENST00000656455.1 | n.484+99885A>G | intron_variant, non_coding_transcript_variant | ||||||||
ENST00000524132.6 | n.530-64460A>G | intron_variant, non_coding_transcript_variant | 4 | |||||||
ENST00000651399.1 | n.516+99885A>G | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.449 AC: 68159AN: 151922Hom.: 15330 Cov.: 32
GnomAD4 genome AF: 0.449 AC: 68228AN: 152040Hom.: 15355 Cov.: 32 AF XY: 0.448 AC XY: 33305AN XY: 74316
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at