rs375528061
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_005392.4(PHF2):āc.504G>Cā(p.Lys168Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000214 in 1,399,436 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. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in the same amino acid substitution has been previously reported as Uncertain significance in ClinVar.
Frequency
Consequence
NM_005392.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PHF2 | ENST00000359246.9 | c.504G>C | p.Lys168Asn | missense_variant | Exon 5 of 22 | 1 | NM_005392.4 | ENSP00000352185.4 | ||
PHF2 | ENST00000610682.1 | c.239+12649G>C | intron_variant | Intron 3 of 7 | 5 | ENSP00000479936.1 | ||||
PHF2 | ENST00000375376.8 | c.187-4153G>C | intron_variant | Intron 3 of 8 | 5 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome AF: 0.00000214 AC: 3AN: 1399436Hom.: 0 Cov.: 32 AF XY: 0.00000290 AC XY: 2AN XY: 690228
GnomAD4 genome Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.