rs4468073
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000660383.1(ENSG00000225689):n.567+49103G>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 0.498 in 110,916 control chromosomes in the GnomAD database, including 11,487 homozygotes. There are 16,556 hemizygotes in GnomAD. 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 |
---|---|---|---|---|---|---|---|
LOC124905213 | XR_007068324.1 | n.1642+49103G>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000660383.1 | n.567+49103G>T | intron_variant, non_coding_transcript_variant | |||||||
ENST00000653849.1 | n.1435+49103G>T | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.498 AC: 55238AN: 110861Hom.: 11491 Cov.: 23 AF XY: 0.500 AC XY: 16541AN XY: 33105
GnomAD4 genome ? AF: 0.498 AC: 55241AN: 110916Hom.: 11487 Cov.: 23 AF XY: 0.499 AC XY: 16556AN XY: 33170
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at