rs9821880
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_018192.4(P3H2):c.507A>T(p.Glu169Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. E169E) has been classified as Benign.
Frequency
Consequence
NM_018192.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
P3H2 | NM_018192.4 | c.507A>T | p.Glu169Asp | missense_variant | 2/15 | ENST00000319332.10 | |
P3H2 | NM_001134418.2 | c.-37A>T | 5_prime_UTR_variant | 2/15 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
P3H2 | ENST00000319332.10 | c.507A>T | p.Glu169Asp | missense_variant | 2/15 | 1 | NM_018192.4 | P1 | |
P3H2 | ENST00000427335.6 | c.-37A>T | 5_prime_UTR_variant | 2/15 | 1 | ||||
P3H2 | ENST00000426003.1 | c.-37A>T | 5_prime_UTR_variant | 2/4 | 4 | ||||
P3H2 | ENST00000444866.5 | c.-37A>T | 5_prime_UTR_variant | 2/4 | 4 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Cov.: 38
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at