rs6538761
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000552238.1(ENSG00000258131):n.39+54748A>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 0.66 in 152,056 control chromosomes in the GnomAD database, including 33,255 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 |
---|---|---|---|---|---|---|---|---|---|
ENST00000552238.1 | n.39+54748A>C | intron_variant, non_coding_transcript_variant | 4 | ||||||
ENST00000668647.1 | n.297+7019A>C | intron_variant, non_coding_transcript_variant | |||||||
ENST00000549896.1 | n.190+7019A>C | intron_variant, non_coding_transcript_variant | 5 | ||||||
ENST00000666269.1 | n.255+7019A>C | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.660 AC: 100303AN: 151938Hom.: 33212 Cov.: 32
GnomAD4 genome ? AF: 0.660 AC: 100405AN: 152056Hom.: 33255 Cov.: 32 AF XY: 0.659 AC XY: 48971AN XY: 74338
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at