rs2227319
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000583462.1(ENSG00000265799):n.38C>T variant causes a non coding transcript exon change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.308 in 152,100 control chromosomes in the GnomAD database, including 8,405 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 |
---|
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000583462.1 | n.38C>T | non_coding_transcript_exon_variant | 1/2 | 3 | |||||
ENST00000584649.1 | n.114C>T | non_coding_transcript_exon_variant | 1/3 | 4 |
Frequencies
GnomAD3 genomes ? AF: 0.308 AC: 46763AN: 151870Hom.: 8409 Cov.: 31
GnomAD4 exome AF: 0.348 AC: 39AN: 112Hom.: 5 Cov.: 0 AF XY: 0.351 AC XY: 26AN XY: 74
GnomAD4 genome ? AF: 0.308 AC: 46751AN: 151988Hom.: 8400 Cov.: 31 AF XY: 0.309 AC XY: 22933AN XY: 74272
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at