NM_000518.5:c.93-23T>C
Variant summary
Our verdict is Benign. Variant got -13 ACMG points: 0P and 13B. BP4_StrongBP6BS1BS2
The NM_000518.5(HBB):c.93-23T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00106 in 1,607,692 control chromosomes in the GnomAD database, including 18 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_000518.5 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -13 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00552 AC: 840AN: 152098Hom.: 11 Cov.: 32
GnomAD3 exomes AF: 0.00139 AC: 349AN: 250970Hom.: 4 AF XY: 0.000922 AC XY: 125AN XY: 135648
GnomAD4 exome AF: 0.000592 AC: 861AN: 1455476Hom.: 7 Cov.: 33 AF XY: 0.000509 AC XY: 369AN XY: 724544
GnomAD4 genome AF: 0.00551 AC: 839AN: 152216Hom.: 11 Cov.: 32 AF XY: 0.00556 AC XY: 414AN XY: 74434
ClinVar
Submissions by phenotype
beta Thalassemia Uncertain:1Benign:2
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not provided Benign:3
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HBB-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Beta-thalassemia HBB/LCRB Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at