rs4353357
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000648233.2(ENSG00000285840):n.300+4896G>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 0.22 in 152,154 control chromosomes in the GnomAD database, including 3,733 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 |
---|---|---|---|---|---|---|---|
HMGB1 | NM_001313893.1 | c.-14-10812C>T | intron_variant | ||||
HMGB1 | NM_001370340.1 | c.-14-10812C>T | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000648233.2 | n.300+4896G>A | intron_variant, non_coding_transcript_variant | |||||||
HMGB1 | ENST00000405805.5 | c.-14-10812C>T | intron_variant | 2 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.220 AC: 33450AN: 152036Hom.: 3732 Cov.: 32
GnomAD4 genome ? AF: 0.220 AC: 33456AN: 152154Hom.: 3733 Cov.: 32 AF XY: 0.220 AC XY: 16378AN XY: 74382
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at