rs2014307
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000650300.1(ENSG00000285955):n.1852+379A>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 0.626 in 151,900 control chromosomes in the GnomAD database, including 30,025 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 |
---|---|---|---|---|---|---|---|
LOC105378525 | XR_946382.3 | n.1874+379A>C | intron_variant, non_coding_transcript_variant | ||||
LOC105378525 | XR_946383.3 | n.1852+379A>C | intron_variant, non_coding_transcript_variant | ||||
LOC105378525 | XR_946384.3 | n.1601+379A>C | intron_variant, non_coding_transcript_variant | ||||
LOC105378525 | XR_946385.3 | n.1852+379A>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000650300.1 | n.1852+379A>C | intron_variant, non_coding_transcript_variant | |||||||
ENST00000647969.1 | n.182+379A>C | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.626 AC: 94974AN: 151782Hom.: 29977 Cov.: 31
GnomAD4 genome AF: 0.626 AC: 95075AN: 151900Hom.: 30025 Cov.: 31 AF XY: 0.621 AC XY: 46092AN XY: 74226
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at