8-66840093-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 4P and 4B. PP3_StrongBS2
The NM_001033578.3(SGK3):c.832C>A(p.His278Asn) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000684 in 1,461,676 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 (★).
Frequency
Consequence
NM_001033578.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SGK3 | NM_001033578.3 | c.832C>A | p.His278Asn | missense_variant | 11/17 | ENST00000521198.7 | |
C8orf44-SGK3 | NM_001204173.2 | c.832C>A | p.His278Asn | missense_variant | 13/19 | ||
SGK3 | NM_013257.5 | c.832C>A | p.His278Asn | missense_variant | 11/17 | ||
SGK3 | NM_170709.3 | c.832C>A | p.His278Asn | missense_variant | 11/16 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SGK3 | ENST00000521198.7 | c.832C>A | p.His278Asn | missense_variant | 11/17 | 1 | NM_001033578.3 | P1 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome AF: 0.00000684 AC: 10AN: 1461676Hom.: 0 Cov.: 32 AF XY: 0.00000688 AC XY: 5AN XY: 727116
GnomAD4 genome Cov.: 31
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Feb 14, 2023 | The c.832C>A (p.H278N) alteration is located in exon 11 (coding exon 10) of the SGK3 gene. This alteration results from a C to A substitution at nucleotide position 832, causing the histidine (H) at amino acid position 278 to be replaced by an asparagine (N). 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
Publications
No publications associated with this variant yet.