4-76306813-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_003943.5(STBD1):c.44C>T(p.Ala15Val) variant causes a missense change. The variant allele was found at a frequency of 0.000115 in 1,612,442 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_003943.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000394 AC: 6AN: 152098Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000162 AC: 4AN: 246826Hom.: 0 AF XY: 0.00000746 AC XY: 1AN XY: 134090
GnomAD4 exome AF: 0.000123 AC: 180AN: 1460344Hom.: 0 Cov.: 31 AF XY: 0.000118 AC XY: 86AN XY: 726498
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152098Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74286
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.44C>T (p.A15V) alteration is located in exon 1 (coding exon 1) of the STBD1 gene. This alteration results from a C to T substitution at nucleotide position 44, causing the alanine (A) at amino acid position 15 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at