14-23275873-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_020834.3(HOMEZ):c.1355C>A(p.Pro452Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000125 in 1,598,548 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_020834.3 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 |
---|---|---|---|---|---|---|---|
HOMEZ | NM_020834.3 | c.1355C>A | p.Pro452Gln | missense_variant | 2/2 | ENST00000357460.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
HOMEZ | ENST00000357460.7 | c.1355C>A | p.Pro452Gln | missense_variant | 2/2 | 1 | NM_020834.3 | P2 | |
HOMEZ | ENST00000561013.3 | c.1361C>A | p.Pro454Gln | missense_variant | 3/3 | 2 | A2 | ||
HOMEZ | ENST00000673724.1 | c.1022C>A | p.Pro341Gln | missense_variant | 3/3 | A2 | |||
HOMEZ | ENST00000606731.2 | c.845C>A | p.Pro282Gln | missense_variant | 2/2 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.0000592 AC: 9AN: 152118Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.00000760 AC: 11AN: 1446430Hom.: 0 Cov.: 36 AF XY: 0.00000557 AC XY: 4AN XY: 717692
GnomAD4 genome ? AF: 0.0000592 AC: 9AN: 152118Hom.: 0 Cov.: 32 AF XY: 0.0000942 AC XY: 7AN XY: 74320
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 29, 2023 | The c.1355C>A (p.P452Q) alteration is located in exon 2 (coding exon 2) of the HOMEZ gene. This alteration results from a C to A substitution at nucleotide position 1355, causing the proline (P) at amino acid position 452 to be replaced by a glutamine (Q). 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