rs2444728
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000558875.1(ENSG00000259737):n.205+11650T>G 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 0.925 in 152,070 control chromosomes in the GnomAD database, including 65,440 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 |
---|---|---|---|---|---|---|---|
LOC105370768 | XR_932110.1 | n.248+6016A>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000558875.1 | n.205+11650T>G | intron_variant, non_coding_transcript_variant | 3 | ||||||
ENST00000558262.5 | n.122+3099T>G | intron_variant, non_coding_transcript_variant | 5 |
Frequencies
GnomAD3 genomes AF: 0.925 AC: 140566AN: 151952Hom.: 65400 Cov.: 31
GnomAD4 genome AF: 0.925 AC: 140661AN: 152070Hom.: 65440 Cov.: 31 AF XY: 0.924 AC XY: 68709AN XY: 74346
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at