18-13643386-G-A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001378100.1(LDLRAD4):c.364G>A(p.Ala122Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000135 in 1,262,138 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001378100.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
LDLRAD4 | NM_001378100.1 | c.364G>A | p.Ala122Thr | missense_variant | 6/7 | ENST00000359446.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
LDLRAD4 | ENST00000359446.11 | c.364G>A | p.Ala122Thr | missense_variant | 6/7 | 1 | NM_001378100.1 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00000683 AC: 1AN: 146396Hom.: 0 Cov.: 30
GnomAD3 exomes AF: 0.0000109 AC: 1AN: 91642Hom.: 0 AF XY: 0.0000200 AC XY: 1AN XY: 49894
GnomAD4 exome AF: 0.0000143 AC: 16AN: 1115742Hom.: 0 Cov.: 29 AF XY: 0.0000111 AC XY: 6AN XY: 539378
GnomAD4 genome AF: 0.00000683 AC: 1AN: 146396Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 71038
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at