7-138627461-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_001139456.2(SVOPL):āc.1070T>Cā(p.Leu357Ser) variant causes a missense, splice region change. The variant allele was found at a frequency of 0.0000329 in 1,609,070 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001139456.2 missense, splice_region
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000460 AC: 7AN: 152182Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000279 AC: 7AN: 250532Hom.: 0 AF XY: 0.00000738 AC XY: 1AN XY: 135460
GnomAD4 exome AF: 0.0000316 AC: 46AN: 1456888Hom.: 0 Cov.: 30 AF XY: 0.0000317 AC XY: 23AN XY: 725100
GnomAD4 genome AF: 0.0000460 AC: 7AN: 152182Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74340
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 21, 2024 | The c.1070T>C (p.L357S) alteration is located in exon 11 (coding exon 11) of the SVOPL gene. This alteration results from a T to C substitution at nucleotide position 1070, causing the leucine (L) at amino acid position 357 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