11-5234420-G-A
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP4_StrongBS2_Supporting
The NM_000519.4(HBD):c.14C>T(p.Thr5Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0016 in 1,612,808 control chromosomes in the GnomAD database, including 4 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. T5S) has been classified as Likely benign.
Frequency
Consequence
NM_000519.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00139 AC: 211AN: 152212Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00143 AC: 360AN: 251150Hom.: 1 AF XY: 0.00155 AC XY: 211AN XY: 135726
GnomAD4 exome AF: 0.00163 AC: 2377AN: 1460478Hom.: 4 Cov.: 30 AF XY: 0.00164 AC XY: 1191AN XY: 726686
GnomAD4 genome AF: 0.00139 AC: 211AN: 152330Hom.: 0 Cov.: 32 AF XY: 0.00130 AC XY: 97AN XY: 74494
ClinVar
Submissions by phenotype
not provided Uncertain:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at