rs219553
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000435237.1(ENSG00000233005):n.120+133577G>A 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 0.344 in 152,102 control chromosomes in the GnomAD database, including 12,091 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 |
---|---|---|---|---|---|---|---|
LOC105374318 | XR_939801.3 | n.3786-1706G>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000435237.1 | n.120+133577G>A | intron_variant, non_coding_transcript_variant | 3 | ||||||
ENST00000451476.1 | n.246+34377G>A | intron_variant, non_coding_transcript_variant | 5 | ||||||
ENST00000649482.1 | n.204-1706G>A | intron_variant, non_coding_transcript_variant | |||||||
ENST00000653699.1 | n.247-1706G>A | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.344 AC: 52288AN: 151984Hom.: 12069 Cov.: 33
GnomAD4 genome AF: 0.344 AC: 52361AN: 152102Hom.: 12091 Cov.: 33 AF XY: 0.342 AC XY: 25437AN XY: 74332
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at