rs7256241
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000710708.1(ENSG00000269842):n.463-4330T>G 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 0.465 in 486,520 control chromosomes in the GnomAD database, including 53,291 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 |
---|---|---|---|---|---|---|---|---|---|
ENST00000710708.1 | n.463-4330T>G | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.461 AC: 70033AN: 151838Hom.: 16209 Cov.: 32
GnomAD4 exome AF: 0.467 AC: 156151AN: 334564Hom.: 37058 AF XY: 0.470 AC XY: 88916AN XY: 189026
GnomAD4 genome AF: 0.461 AC: 70117AN: 151956Hom.: 16233 Cov.: 32 AF XY: 0.466 AC XY: 34640AN XY: 74270
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at