15-34363678-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_153613.3(LPCAT4):c.694C>A(p.Arg232Ser) variant causes a missense change. The variant allele was found at a frequency of 0.0000564 in 1,613,992 control chromosomes in the GnomAD database, including 1 homozygotes. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_153613.3 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: 0.0000394 AC: 6AN: 152106Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000115 AC: 29AN: 251474Hom.: 0 AF XY: 0.000110 AC XY: 15AN XY: 135910
GnomAD4 exome AF: 0.0000581 AC: 85AN: 1461886Hom.: 1 Cov.: 32 AF XY: 0.0000646 AC XY: 47AN XY: 727246
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152106Hom.: 0 Cov.: 32 AF XY: 0.0000404 AC XY: 3AN XY: 74308
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.694C>A (p.R232S) alteration is located in exon 6 (coding exon 6) of the LPCAT4 gene. This alteration results from a C to A substitution at nucleotide position 694, causing the arginine (R) at amino acid position 232 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