11-85663887-T-G
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_001039618.4(CREBZF):c.989A>C(p.His330Pro) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000732 in 1,612,318 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. H330Q) has been classified as Uncertain significance.
Frequency
Consequence
NM_001039618.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CREBZF | NM_001039618.4 | c.989A>C | p.His330Pro | missense_variant | 1/1 | ENST00000527447.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CREBZF | ENST00000527447.2 | c.989A>C | p.His330Pro | missense_variant | 1/1 | NM_001039618.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000725 AC: 11AN: 151808Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000241 AC: 6AN: 248450Hom.: 0 AF XY: 0.0000296 AC XY: 4AN XY: 134946
GnomAD4 exome AF: 0.0000733 AC: 107AN: 1460510Hom.: 0 Cov.: 32 AF XY: 0.0000619 AC XY: 45AN XY: 726640
GnomAD4 genome ? AF: 0.0000725 AC: 11AN: 151808Hom.: 0 Cov.: 32 AF XY: 0.0000809 AC XY: 6AN XY: 74154
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Sep 29, 2023 | The c.989A>C (p.H330P) alteration is located in exon 1 (coding exon 1) of the CREBZF gene. This alteration results from a A to C substitution at nucleotide position 989, causing the histidine (H) at amino acid position 330 to be replaced by a proline (P). 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