chr21-43658154-C-T
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_007031.2(HSF2BP):c.-58G>A variant causes a 5 prime UTR premature start codon gain change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.577 in 1,469,810 control chromosomes in the GnomAD database, including 247,111 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
Consequence
NM_007031.2 5_prime_UTR_premature_start_codon_gain
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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
HSF2BP | NM_007031.2 | c.-58G>A | 5_prime_UTR_premature_start_codon_gain_variant | Exon 2 of 9 | ENST00000291560.7 | NP_008962.1 | ||
HSF2BP | NM_007031.2 | c.-58G>A | 5_prime_UTR_variant | Exon 2 of 9 | ENST00000291560.7 | NP_008962.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
HSF2BP | ENST00000291560.7 | c.-58G>A | 5_prime_UTR_premature_start_codon_gain_variant | Exon 2 of 9 | 1 | NM_007031.2 | ENSP00000291560.2 | |||
HSF2BP | ENST00000291560.7 | c.-58G>A | 5_prime_UTR_variant | Exon 2 of 9 | 1 | NM_007031.2 | ENSP00000291560.2 | |||
HSF2BP | ENST00000443485.1 | c.-58G>A | 5_prime_UTR_premature_start_codon_gain_variant | Exon 2 of 7 | 5 | ENSP00000409585.1 | ||||
HSF2BP | ENST00000443485.1 | c.-58G>A | 5_prime_UTR_variant | Exon 2 of 7 | 5 | ENSP00000409585.1 |
Frequencies
GnomAD3 genomes AF: 0.584 AC: 88817AN: 152068Hom.: 26359 Cov.: 35
GnomAD4 exome AF: 0.576 AC: 758625AN: 1317624Hom.: 220721 Cov.: 30 AF XY: 0.577 AC XY: 371958AN XY: 644162
GnomAD4 genome AF: 0.584 AC: 88904AN: 152186Hom.: 26390 Cov.: 35 AF XY: 0.595 AC XY: 44298AN XY: 74422
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at