chr16-72060133-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_005143.5(HP):c.464C>G(p.Pro155Arg) variant causes a missense change. The variant allele was found at a frequency of 0.000118 in 1,613,494 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign 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. P155Q) has been classified as Uncertain significance.
Frequency
Consequence
NM_005143.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
HP | NM_005143.5 | c.464C>G | p.Pro155Arg | missense_variant | 7/7 | ENST00000355906.10 | |
HP | NM_001126102.3 | c.287C>G | p.Pro96Arg | missense_variant | 5/5 | ||
HP | NM_001318138.2 | c.287C>G | p.Pro96Arg | missense_variant | 5/5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
HP | ENST00000355906.10 | c.464C>G | p.Pro155Arg | missense_variant | 7/7 | 1 | NM_005143.5 | A2 |
Frequencies
GnomAD3 genomes ? AF: 0.000171 AC: 26AN: 152072Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.000145 AC: 35AN: 241168Hom.: 0 AF XY: 0.000114 AC XY: 15AN XY: 131282
GnomAD4 exome AF: 0.000113 AC: 165AN: 1461302Hom.: 0 Cov.: 31 AF XY: 0.000107 AC XY: 78AN XY: 726920
GnomAD4 genome ? AF: 0.000171 AC: 26AN: 152192Hom.: 0 Cov.: 31 AF XY: 0.000148 AC XY: 11AN XY: 74406
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 08, 2022 | The c.464C>G (p.P155R) alteration is located in exon 7 (coding exon 7) of the HP gene. This alteration results from a C to G substitution at nucleotide position 464, causing the proline (P) at amino acid position 155 to be replaced by an arginine (R). 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