rs3810686
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_181332.3(NLGN4X):c.*284G>T variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00106 in 331,497 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 96 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_181332.3 3_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NLGN4X | NM_181332.3 | c.*284G>T | 3_prime_UTR_variant | 6/6 | ENST00000381095.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NLGN4X | ENST00000381095.8 | c.*284G>T | 3_prime_UTR_variant | 6/6 | 1 | NM_181332.3 | P4 |
Frequencies
GnomAD3 genomes ? AF: 0.000829 AC: 92AN: 110960Hom.: 0 Cov.: 23 AF XY: 0.000663 AC XY: 22AN XY: 33174
GnomAD4 exome AF: 0.00118 AC: 261AN: 220481Hom.: 0 Cov.: 2 AF XY: 0.00113 AC XY: 74AN XY: 65619
GnomAD4 genome ? AF: 0.000829 AC: 92AN: 111016Hom.: 0 Cov.: 23 AF XY: 0.000662 AC XY: 22AN XY: 33240
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at