rs4777189
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000687931.2(ENSG00000289525):n.255-2004C>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 0.526 in 151,978 control chromosomes in the GnomAD database, including 21,520 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 |
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Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000687931.2 | n.255-2004C>T | intron_variant, non_coding_transcript_variant | |||||||
DRAIC | ENST00000647319.1 | n.916-1334G>A | intron_variant, non_coding_transcript_variant | ||||||
ENST00000686507.1 | n.223-21C>T | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.526 AC: 79894AN: 151860Hom.: 21481 Cov.: 32
GnomAD4 genome AF: 0.526 AC: 79979AN: 151978Hom.: 21520 Cov.: 32 AF XY: 0.527 AC XY: 39113AN XY: 74254
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at