2-49283034-A-C
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000634588.1(ENSG00000282890):n.493-125168A>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 0.427 in 494,086 control chromosomes in the GnomAD database, including 45,741 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 |
---|---|---|---|---|---|---|---|---|---|
ENST00000634588.1 | n.493-125168A>C | intron_variant, non_coding_transcript_variant | 5 | ||||||
ENST00000635306.1 | n.407+48840T>G | intron_variant, non_coding_transcript_variant | 5 |
Frequencies
GnomAD3 genomes AF: 0.448 AC: 67935AN: 151536Hom.: 15245 Cov.: 33
GnomAD3 exomes AF: 0.419 AC: 91900AN: 219402Hom.: 19609 AF XY: 0.419 AC XY: 50990AN XY: 121820
GnomAD4 exome AF: 0.417 AC: 142816AN: 342432Hom.: 30473 Cov.: 0 AF XY: 0.417 AC XY: 82541AN XY: 197834
GnomAD4 genome AF: 0.448 AC: 68010AN: 151654Hom.: 15268 Cov.: 33 AF XY: 0.447 AC XY: 33095AN XY: 74102
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at