4-8270072-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_053044.5(HTRA3):c.104C>G(p.Pro35Arg) variant causes a missense change. The variant allele was found at a frequency of 0.0000178 in 1,516,086 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 (★).
Frequency
Consequence
NM_053044.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
HTRA3 | NM_053044.5 | c.104C>G | p.Pro35Arg | missense_variant | Exon 1 of 9 | ENST00000307358.7 | NP_444272.1 | |
HTRA3 | NM_001297559.3 | c.104C>G | p.Pro35Arg | missense_variant | Exon 1 of 7 | NP_001284488.1 | ||
HTRA3 | XM_011513596.4 | c.104C>G | p.Pro35Arg | missense_variant | Exon 1 of 7 | XP_011511898.1 | ||
LOC105374373 | XR_001741572.2 | n.75+35G>C | intron_variant | Intron 1 of 1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000112 AC: 17AN: 151898Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000214 AC: 3AN: 140322Hom.: 0 AF XY: 0.0000370 AC XY: 3AN XY: 80978
GnomAD4 exome AF: 0.00000733 AC: 10AN: 1364080Hom.: 0 Cov.: 31 AF XY: 0.00000443 AC XY: 3AN XY: 677160
GnomAD4 genome AF: 0.000112 AC: 17AN: 152006Hom.: 0 Cov.: 33 AF XY: 0.000135 AC XY: 10AN XY: 74322
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.104C>G (p.P35R) alteration is located in exon 1 (coding exon 1) of the HTRA3 gene. This alteration results from a C to G substitution at nucleotide position 104, causing the proline (P) at amino acid position 35 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