15-43600010-C-T
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BP4_Strong
The NM_153700.2(STRC):c.5189G>A(p.Arg1730Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. 15/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (no stars).
Frequency
Consequence
NM_153700.2 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: 0.00 AC: 4AN: 146834Hom.: 0 Cov.: 21 FAILED QC
GnomAD3 exomes AF: 0.0000373 AC: 9AN: 241456Hom.: 0 AF XY: 0.0000306 AC XY: 4AN XY: 130686
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000103 AC: 15AN: 1457316Hom.: 0 Cov.: 32 AF XY: 0.0000110 AC XY: 8AN XY: 724828
GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000272 AC: 4AN: 146948Hom.: 0 Cov.: 21 AF XY: 0.0000140 AC XY: 1AN XY: 71446
ClinVar
Submissions by phenotype
STRC-related disorder Uncertain:1
The STRC c.5189G>A variant is predicted to result in the amino acid substitution p.Arg1730Gln. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.038% of alleles in individuals of European (Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at