rs4800995
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000654829.1(ENSG00000267284):n.157-36753G>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 0.757 in 152,016 control chromosomes in the GnomAD database, including 43,827 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 |
---|---|---|---|---|---|---|---|
LOC105372130 | XR_007066382.1 | n.329-36753G>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000654829.1 | n.157-36753G>A | intron_variant, non_coding_transcript_variant | |||||||
ENST00000587346.1 | n.140-13157G>A | intron_variant, non_coding_transcript_variant | 4 | ||||||
ENST00000589662.1 | n.217+26612G>A | intron_variant, non_coding_transcript_variant | 5 | ||||||
ENST00000592936.1 | n.473-10894G>A | intron_variant, non_coding_transcript_variant | 4 |
Frequencies
GnomAD3 genomes ? AF: 0.757 AC: 115026AN: 151898Hom.: 43795 Cov.: 30
GnomAD4 genome ? AF: 0.757 AC: 115109AN: 152016Hom.: 43827 Cov.: 30 AF XY: 0.761 AC XY: 56558AN XY: 74322
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at