10-13322868-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.
The NM_012247.5(SEPHS1):c.931G>A(p.Gly311Ser) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000131 in 1,613,898 control chromosomes in the GnomAD database, including 2 homozygotes. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_012247.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SEPHS1 | ENST00000327347.10 | c.931G>A | p.Gly311Ser | missense_variant | Exon 8 of 9 | 1 | NM_012247.5 | ENSP00000367893.3 | ||
SEPHS1 | ENST00000545675.5 | c.730G>A | p.Gly244Ser | missense_variant | Exon 7 of 8 | 1 | ENSP00000441119.2 | |||
SEPHS1 | ENST00000378614.8 | c.752-3512G>A | intron_variant | Intron 7 of 7 | 1 | ENSP00000367877.3 |
Frequencies
GnomAD3 genomes AF: 0.000171 AC: 26AN: 152184Hom.: 1 Cov.: 31
GnomAD3 exomes AF: 0.0000877 AC: 22AN: 250976Hom.: 0 AF XY: 0.0000737 AC XY: 10AN XY: 135672
GnomAD4 exome AF: 0.000127 AC: 186AN: 1461596Hom.: 1 Cov.: 31 AF XY: 0.000120 AC XY: 87AN XY: 727104
GnomAD4 genome AF: 0.000171 AC: 26AN: 152302Hom.: 1 Cov.: 31 AF XY: 0.0000671 AC XY: 5AN XY: 74488
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.931G>A (p.G311S) alteration is located in exon 8 (coding exon 7) of the SEPHS1 gene. This alteration results from a G to A substitution at nucleotide position 931, causing the glycine (G) at amino acid position 311 to be replaced by a serine (S). 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