NM_016038.4:c.70G>A
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM1PP3
The NM_016038.4(SBDS):c.70G>A(p.Gly24Arg) variant causes a missense change. The variant allele was found at a frequency of 0.0000545 in 1,613,994 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. 12/21 in silico tools predict a damaging outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_016038.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SBDS | NM_016038.4 | c.70G>A | p.Gly24Arg | missense_variant | Exon 1 of 5 | ENST00000246868.7 | NP_057122.2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000985 AC: 15AN: 152256Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000597 AC: 15AN: 251434Hom.: 0 AF XY: 0.0000515 AC XY: 7AN XY: 135898
GnomAD4 exome AF: 0.0000499 AC: 73AN: 1461738Hom.: 0 Cov.: 31 AF XY: 0.0000481 AC XY: 35AN XY: 727172
GnomAD4 genome AF: 0.0000985 AC: 15AN: 152256Hom.: 0 Cov.: 33 AF XY: 0.000161 AC XY: 12AN XY: 74384
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
The p.G24R variant (also known as c.70G>A), located in coding exon 1 of the SBDS gene, results from a G to A substitution at nucleotide position 70. The glycine at codon 24 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. -
SBDS-related disorder Uncertain:1
The SBDS c.70G>A variant is predicted to result in the amino acid substitution p.Gly24Arg. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.036% of alleles in individuals of South Asian 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