chr4-165464512-A-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001873.4(CPE):c.430A>C(p.Asn144His) variant causes a missense change. The variant allele was found at a frequency of 0.000000684 in 1,461,682 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001873.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CPE | NM_001873.4 | c.430A>C | p.Asn144His | missense_variant | 2/9 | ENST00000402744.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CPE | ENST00000402744.9 | c.430A>C | p.Asn144His | missense_variant | 2/9 | 1 | NM_001873.4 | P1 | |
CPE | ENST00000511992.1 | c.94A>C | p.Asn32His | missense_variant | 2/5 | 5 | |||
CPE | ENST00000431967.5 | c.94A>C | p.Asn32His | missense_variant | 2/4 | 4 | |||
CPE | ENST00000513982.5 | c.94A>C | p.Asn32His | missense_variant | 2/4 | 4 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461682Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 727144
GnomAD4 genome ? Cov.: 33
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Feb 16, 2023 | The c.430A>C (p.N144H) alteration is located in exon 2 (coding exon 2) of the CPE gene. This alteration results from a A to C substitution at nucleotide position 430, causing the asparagine (N) at amino acid position 144 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.