ENST00000416671.5:n.-120G>A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_172002.5(HSCB):c.236+211A>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000151 in 660,674 control chromosomes in the GnomAD database, with no homozygous occurrence. 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_172002.5 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
HSCB | NM_172002.5 | c.236+211A>T | intron_variant | Intron 1 of 5 | ENST00000216027.8 | NP_741999.3 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 30
GnomAD4 exome AF: 0.00000151 AC: 1AN: 660674Hom.: 0 Cov.: 9 AF XY: 0.00000300 AC XY: 1AN XY: 333534
GnomAD4 genome Cov.: 30
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.