rs782532619
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6BP7BS1BS2
The NM_001184896.1(PHF8):c.105G>A(p.Ala35Ala) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000224 in 1,205,856 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 9 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_001184896.1 synonymous
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PHF8 | NM_015107.3 | c.-4G>A | 5_prime_UTR_variant | 2/22 | ENST00000338154.11 | NP_055922.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PHF8 | ENST00000338154.11 | c.-4G>A | 5_prime_UTR_variant | 2/22 | 1 | NM_015107.3 | ENSP00000338868.6 |
Frequencies
GnomAD3 genomes AF: 0.0000889 AC: 10AN: 112532Hom.: 0 Cov.: 22 AF XY: 0.0000865 AC XY: 3AN XY: 34688
GnomAD3 exomes AF: 0.0000813 AC: 14AN: 172245Hom.: 0 AF XY: 0.000137 AC XY: 8AN XY: 58589
GnomAD4 exome AF: 0.0000155 AC: 17AN: 1093324Hom.: 0 Cov.: 30 AF XY: 0.0000167 AC XY: 6AN XY: 359036
GnomAD4 genome AF: 0.0000889 AC: 10AN: 112532Hom.: 0 Cov.: 22 AF XY: 0.0000865 AC XY: 3AN XY: 34688
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Genetic Services Laboratory, University of Chicago | Apr 03, 2017 | - - |
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Jul 26, 2018 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at