rs2353803
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000428533.5(ENSG00000230333):n.138+49971C>A 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 0.0939 in 152,002 control chromosomes in the GnomAD database, including 780 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
Genome browser will be placed here
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 |
---|---|---|---|---|---|---|---|---|---|
ENST00000428533.5 | n.138+49971C>A | intron_variant, non_coding_transcript_variant | 5 | ||||||
ENST00000428967.5 | n.415-878C>A | intron_variant, non_coding_transcript_variant | 4 | ||||||
ENST00000441110.5 | n.546+2936C>A | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.0940 AC: 14272AN: 151884Hom.: 776 Cov.: 32
GnomAD4 genome ? AF: 0.0939 AC: 14280AN: 152002Hom.: 780 Cov.: 32 AF XY: 0.0916 AC XY: 6810AN XY: 74314
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at