rs7624
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000612269.2(ENSG00000274104):n.937C>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 0.281 in 151,900 control chromosomes in the GnomAD database, including 6,547 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 |
---|---|---|---|---|---|---|---|---|---|
ENST00000612269.2 | n.937C>T | non_coding_transcript_exon_variant | 1/1 |
Frequencies
GnomAD3 genomes ? AF: 0.282 AC: 42724AN: 151762Hom.: 6555 Cov.: 31
GnomAD4 exome AF: 0.150 AC: 3AN: 20Hom.: 0 Cov.: 0 AF XY: 0.200 AC XY: 2AN XY: 10
GnomAD4 genome ? AF: 0.281 AC: 42721AN: 151880Hom.: 6547 Cov.: 31 AF XY: 0.282 AC XY: 20946AN XY: 74228
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at