rs12543698
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000522244.1(ENSG00000253796):n.374+3834A>T 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 0.194 in 152,054 control chromosomes in the GnomAD database, including 3,288 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 |
---|---|---|---|---|---|---|---|
LOC101927413 | XR_928533.3 | n.289+1344A>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000522244.1 | n.374+3834A>T | intron_variant, non_coding_transcript_variant | 3 | ||||||
ENST00000524134.1 | n.122+1344A>T | intron_variant, non_coding_transcript_variant | 5 | ||||||
ENST00000661381.1 | n.123+1344A>T | intron_variant, non_coding_transcript_variant | |||||||
ENST00000702172.1 | n.289+1344A>T | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.194 AC: 29489AN: 151940Hom.: 3280 Cov.: 31
GnomAD4 genome ? AF: 0.194 AC: 29507AN: 152054Hom.: 3288 Cov.: 31 AF XY: 0.199 AC XY: 14781AN XY: 74294
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at