1-165544612-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001005214.4(LRRC52):c.316C>T(p.Leu106Phe) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000906 in 1,613,910 control chromosomes in the GnomAD database, including 1 homozygotes. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001005214.4 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: 0.000487 AC: 74AN: 151898Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.000541 AC: 136AN: 251444Hom.: 0 AF XY: 0.000648 AC XY: 88AN XY: 135892
GnomAD4 exome AF: 0.000949 AC: 1388AN: 1461894Hom.: 1 Cov.: 35 AF XY: 0.000879 AC XY: 639AN XY: 727248
GnomAD4 genome AF: 0.000487 AC: 74AN: 152016Hom.: 0 Cov.: 31 AF XY: 0.000458 AC XY: 34AN XY: 74300
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.316C>T (p.L106F) alteration is located in exon 1 (coding exon 1) of the LRRC52 gene. This alteration results from a C to T substitution at nucleotide position 316, causing the leucine (L) at amino acid position 106 to be replaced by a phenylalanine (F). 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