rs999768591
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_005558.4(LAD1):āc.28G>Cā(p.Ala10Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000716 in 1,397,588 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. A10T) has been classified as Uncertain significance.
Frequency
Consequence
NM_005558.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
LAD1 | ENST00000391967.7 | c.28G>C | p.Ala10Pro | missense_variant | Exon 1 of 10 | 1 | NM_005558.4 | ENSP00000375829.2 | ||
LAD1 | ENST00000367313.4 | c.80+131G>C | intron_variant | Intron 1 of 9 | 1 | ENSP00000356282.3 | ||||
LAD1 | ENST00000633953.1 | c.-25G>C | 5_prime_UTR_variant | Exon 1 of 4 | 4 | ENSP00000487726.1 | ||||
LAD1 | ENST00000631576.1 | c.38+599G>C | intron_variant | Intron 1 of 2 | 4 | ENSP00000488829.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 7.16e-7 AC: 1AN: 1397588Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 691040
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.