rs4844289
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000664514.3(ENSG00000228427):n.332-4116T>C 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 0.51 in 110,092 control chromosomes in the GnomAD database, including 10,992 homozygotes. There are 16,451 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 |
---|---|---|---|---|---|---|---|
LOC107985688 | XR_001755878.2 | n.286-4116T>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000664514.3 | n.332-4116T>C | intron_variant, non_coding_transcript_variant | |||||||
ENST00000450860.1 | n.268-4116T>C | intron_variant, non_coding_transcript_variant | 3 | ||||||
ENST00000652147.2 | n.322-4120T>C | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.510 AC: 56123AN: 110037Hom.: 10985 Cov.: 23 AF XY: 0.507 AC XY: 16400AN XY: 32333
GnomAD4 genome ? AF: 0.510 AC: 56181AN: 110092Hom.: 10992 Cov.: 23 AF XY: 0.508 AC XY: 16451AN XY: 32398
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at