8-142750405-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_205545.3(LYPD2):c.256G>A(p.Gly86Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000152 in 1,583,148 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_205545.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000328 AC: 5AN: 152214Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.0000200 AC: 4AN: 199964Hom.: 0 AF XY: 0.0000280 AC XY: 3AN XY: 107058
GnomAD4 exome AF: 0.0000133 AC: 19AN: 1430816Hom.: 0 Cov.: 33 AF XY: 0.0000198 AC XY: 14AN XY: 708536
GnomAD4 genome AF: 0.0000328 AC: 5AN: 152332Hom.: 0 Cov.: 34 AF XY: 0.0000537 AC XY: 4AN XY: 74486
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.256G>A (p.G86S) alteration is located in exon 3 (coding exon 3) of the LYPD2 gene. This alteration results from a G to A substitution at nucleotide position 256, causing the glycine (G) at amino acid position 86 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