rs4075749
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000691186.1(ENSG00000289450):n.213-31628A>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 0.238 in 152,010 control chromosomes in the GnomAD database, including 4,828 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
LOC105377013 | XR_940683.2 | n.293+3602T>C | intron_variant, non_coding_transcript_variant | |||||
LOC101927995 | XR_001740627.2 | n.213-31628A>G | intron_variant, non_coding_transcript_variant | |||||
LOC101927995 | XR_001740628.2 | n.261-31628A>G | intron_variant, non_coding_transcript_variant | |||||
LOC101927995 | XR_007095856.1 | n.257-31628A>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ENST00000691186.1 | n.213-31628A>G | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.239 AC: 36232AN: 151892Hom.: 4828 Cov.: 31
GnomAD4 genome AF: 0.238 AC: 36229AN: 152010Hom.: 4828 Cov.: 31 AF XY: 0.235 AC XY: 17465AN XY: 74278
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at