6-147239221-C-T
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_001127715.4(STXBP5):c.382C>T(p.Arg128Cys) variant causes a missense change. The variant allele was found at a frequency of 0.000018 in 1,613,640 control chromosomes in the GnomAD database, including 1 homozygotes. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001127715.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000329 AC: 5AN: 152086Hom.: 1 Cov.: 32
GnomAD3 exomes AF: 0.0000358 AC: 9AN: 251276Hom.: 0 AF XY: 0.0000442 AC XY: 6AN XY: 135804
GnomAD4 exome AF: 0.0000164 AC: 24AN: 1461436Hom.: 0 Cov.: 30 AF XY: 0.0000165 AC XY: 12AN XY: 726996
GnomAD4 genome AF: 0.0000329 AC: 5AN: 152204Hom.: 1 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74402
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.382C>T (p.R128C) alteration is located in exon 4 (coding exon 4) of the STXBP5 gene. This alteration results from a C to T substitution at nucleotide position 382, causing the arginine (R) at amino acid position 128 to be replaced by a cysteine (C). 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