rs4738150
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000691315.1(ENSG00000254277):n.187+20137G>A 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 0.499 in 151,966 control chromosomes in the GnomAD database, including 21,446 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 |
---|---|---|---|---|---|---|---|---|---|
ENST00000691315.1 | n.187+20137G>A | intron_variant, non_coding_transcript_variant | |||||||
ENST00000519840.1 | n.237-6543G>A | intron_variant, non_coding_transcript_variant | 2 | ||||||
ENST00000521131.1 | n.160-269G>A | intron_variant, non_coding_transcript_variant | 3 | ||||||
ENST00000693596.1 | n.188-1955G>A | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.499 AC: 75772AN: 151848Hom.: 21437 Cov.: 32
GnomAD4 genome ? AF: 0.499 AC: 75805AN: 151966Hom.: 21446 Cov.: 32 AF XY: 0.501 AC XY: 37209AN XY: 74272
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at