chr1-151801375-T-A
Variant summary
Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001004432.4(LINGO4):c.1330A>T(p.Thr444Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0371 in 1,613,770 control chromosomes in the GnomAD database, including 7,318 homozygotes. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001004432.4 missense
Scores
Clinical Significance
Conservation
Publications
Genome browser will be placed here
ACMG classification
Our verdict: Benign. The variant received -12 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0580 AC: 8824AN: 152078Hom.: 823 Cov.: 33 show subpopulations
GnomAD2 exomes AF: 0.0988 AC: 24825AN: 251290 AF XY: 0.0954 show subpopulations
GnomAD4 exome AF: 0.0349 AC: 51010AN: 1461574Hom.: 6497 Cov.: 31 AF XY: 0.0389 AC XY: 28302AN XY: 727038 show subpopulations
Age Distribution
GnomAD4 genome AF: 0.0580 AC: 8820AN: 152196Hom.: 821 Cov.: 33 AF XY: 0.0639 AC XY: 4756AN XY: 74430 show subpopulations
Age Distribution
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at