NM_001145400.2:c.86C>A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001145400.2(ADAD2):c.86C>A(p.Pro29His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000209 in 1,436,406 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/20 in silico tools predict 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. P29R) has been classified as Uncertain significance.
Frequency
Consequence
NM_001145400.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ADAD2 | ENST00000315906.10 | c.86C>A | p.Pro29His | missense_variant | Exon 1 of 10 | 1 | NM_001145400.2 | ENSP00000325153.6 | ||
ADAD2 | ENST00000268624.7 | c.86C>A | p.Pro29His | missense_variant | Exon 1 of 11 | 2 | ENSP00000268624.3 | |||
ADAD2 | ENST00000567413.1 | n.126C>A | non_coding_transcript_exon_variant | Exon 1 of 2 | 4 | |||||
ADAD2 | ENST00000567685.1 | c.-143C>A | upstream_gene_variant | 3 | ENSP00000454950.1 |
Frequencies
GnomAD3 genomes Cov.: 35
GnomAD4 exome AF: 0.00000209 AC: 3AN: 1436406Hom.: 0 Cov.: 89 AF XY: 0.00000140 AC XY: 1AN XY: 711756
GnomAD4 genome Cov.: 35
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.