rs1438925313
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The ENST00000337851.9(SGCD):c.437G>A(p.Gly146Glu) variant causes a missense change. The variant allele was found at a frequency of 0.00000137 in 1,460,432 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic 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. G146V) has been classified as Uncertain significance.
Frequency
Consequence
ENST00000337851.9 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SGCD | NM_000337.6 | c.437G>A | p.Gly146Glu | missense_variant | 6/9 | ENST00000337851.9 | NP_000328.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SGCD | ENST00000337851.9 | c.437G>A | p.Gly146Glu | missense_variant | 6/9 | 1 | NM_000337.6 | ENSP00000338343 | P4 | |
SGCD | ENST00000435422.7 | c.434G>A | p.Gly145Glu | missense_variant | 5/8 | 1 | ENSP00000403003 | A1 | ||
SGCD | ENST00000517913.5 | c.437G>A | p.Gly146Glu | missense_variant | 8/10 | 5 | ENSP00000429378 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000403 AC: 1AN: 247942Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 134464
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1460432Hom.: 0 Cov.: 29 AF XY: 0.00000138 AC XY: 1AN XY: 726514
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jun 14, 2024 | The p.G146E variant (also known as c.437G>A), located in coding exon 5 of the SGCD gene, results from a G to A substitution at nucleotide position 437. The glycine at codon 146 is replaced by glutamic acid, an amino acid with similar 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. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at