rs16834831
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000644134.1(ENSG00000285280):n.105-23862A>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 0.0984 in 152,058 control chromosomes in the GnomAD database, including 954 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
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
LOC105371665 | XR_922383.2 | n.225+2243A>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000644134.1 | n.105-23862A>C | intron_variant, non_coding_transcript_variant | |||||||
ENST00000644058.1 | n.194-23862A>C | intron_variant, non_coding_transcript_variant | |||||||
ENST00000645822.1 | n.369+2243A>C | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.0984 AC: 14953AN: 151940Hom.: 952 Cov.: 32
GnomAD4 genome ? AF: 0.0984 AC: 14963AN: 152058Hom.: 954 Cov.: 32 AF XY: 0.0960 AC XY: 7135AN XY: 74326
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at