10-13333926-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_012247.5(SEPHS1):c.451G>A(p.Ala151Thr) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000582 in 1,613,828 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 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
Frequencies
GnomAD3 genomes AF: 0.000210 AC: 32AN: 152106Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000756 AC: 19AN: 251364Hom.: 0 AF XY: 0.0000589 AC XY: 8AN XY: 135868
GnomAD4 exome AF: 0.0000424 AC: 62AN: 1461604Hom.: 0 Cov.: 31 AF XY: 0.0000454 AC XY: 33AN XY: 727128
GnomAD4 genome AF: 0.000210 AC: 32AN: 152224Hom.: 0 Cov.: 32 AF XY: 0.000242 AC XY: 18AN XY: 74430
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.451G>A (p.A151T) alteration is located in exon 5 (coding exon 4) of the SEPHS1 gene. This alteration results from a G to A substitution at nucleotide position 451, causing the alanine (A) at amino acid position 151 to be replaced by a threonine (T). 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