chr18-80247332-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_032510.4(PARD6G):āc.17A>Gā(p.His6Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000701 in 1,425,800 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_032510.4 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 |
---|---|---|---|---|---|---|---|
PARD6G | NM_032510.4 | c.17A>G | p.His6Arg | missense_variant | 1/3 | ENST00000353265.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PARD6G | ENST00000353265.8 | c.17A>G | p.His6Arg | missense_variant | 1/3 | 1 | NM_032510.4 | P1 | |
PARD6G | ENST00000470488.2 | c.17A>G | p.His6Arg | missense_variant | 1/3 | 1 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD3 exomes AF: 0.00000905 AC: 2AN: 221044Hom.: 0 AF XY: 0.0000165 AC XY: 2AN XY: 120852
GnomAD4 exome AF: 7.01e-7 AC: 1AN: 1425800Hom.: 0 Cov.: 30 AF XY: 0.00000141 AC XY: 1AN XY: 709382
GnomAD4 genome Cov.: 31
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Sep 26, 2023 | The c.17A>G (p.H6R) alteration is located in exon 1 (coding exon 1) of the PARD6G gene. This alteration results from a A to G substitution at nucleotide position 17, causing the histidine (H) at amino acid position 6 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