rs6016596
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000685138.2(ENSG00000288843):n.272+43861T>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 0.532 in 151,900 control chromosomes in the GnomAD database, including 23,369 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+43861T>C | intron_variant, non_coding_transcript_variant | |||||||
ENST00000686898.1 | n.238-21085T>C | intron_variant, non_coding_transcript_variant | |||||||
ENST00000691734.1 | n.356-21085T>C | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.531 AC: 80662AN: 151782Hom.: 23316 Cov.: 31
GnomAD4 genome ? AF: 0.532 AC: 80778AN: 151900Hom.: 23369 Cov.: 31 AF XY: 0.535 AC XY: 39724AN XY: 74240
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at