rs4727380
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NR_110073.1(LOC101927243):n.151+1141G>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 0.643 in 416,368 control chromosomes in the GnomAD database, including 86,751 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
Consequence
NR_110073.1 intron, non_coding_transcript
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 |
---|---|---|---|---|---|---|---|
LOC101927243 | NR_110073.1 | n.151+1141G>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|
Frequencies
GnomAD3 genomes ? AF: 0.662 AC: 100532AN: 151930Hom.: 33474 Cov.: 34
GnomAD4 exome AF: 0.632 AC: 167105AN: 264332Hom.: 53227 Cov.: 3 AF XY: 0.628 AC XY: 86505AN XY: 137700
GnomAD4 genome ? AF: 0.662 AC: 100628AN: 152036Hom.: 33524 Cov.: 34 AF XY: 0.658 AC XY: 48916AN XY: 74320
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at