rs587777524
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_001282531.3(ADNP):c.1211C>T(p.Ser404Leu) variant causes a missense change. The variant allele was found at a frequency of 0.0000116 in 1,461,474 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/19 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_001282531.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ADNP | NM_001282531.3 | c.1211C>T | p.Ser404Leu | missense_variant | 6/6 | ENST00000621696.5 | NP_001269460.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ADNP | ENST00000621696.5 | c.1211C>T | p.Ser404Leu | missense_variant | 6/6 | 5 | NM_001282531.3 | ENSP00000483881 | P1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 250992Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135674
GnomAD4 exome AF: 0.0000116 AC: 17AN: 1461474Hom.: 0 Cov.: 34 AF XY: 0.0000110 AC XY: 8AN XY: 727074
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at