rs12480143
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000685138.2(ENSG00000288843):n.272+36267T>C 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 0.3 in 151,746 control chromosomes in the GnomAD database, including 7,088 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 |
---|---|---|---|---|---|---|---|---|---|
ENST00000685138.2 | n.272+36267T>C | intron_variant, non_coding_transcript_variant | |||||||
ENST00000686898.1 | n.238-28679T>C | intron_variant, non_coding_transcript_variant | |||||||
ENST00000691734.1 | n.355+27321T>C | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.300 AC: 45467AN: 151628Hom.: 7068 Cov.: 31
GnomAD4 genome ? AF: 0.300 AC: 45527AN: 151746Hom.: 7088 Cov.: 31 AF XY: 0.303 AC XY: 22473AN XY: 74182
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at