rs10521912
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_000444.6(PHEX):c.349+11375T>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.147 in 111,680 control chromosomes in the GnomAD database, including 1,126 homozygotes. There are 4,798 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_000444.6 intron
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PHEX | NM_000444.6 | c.349+11375T>A | intron_variant | ENST00000379374.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PHEX | ENST00000379374.5 | c.349+11375T>A | intron_variant | 1 | NM_000444.6 | P1 | |||
PHEX | ENST00000684143.1 | c.349+11375T>A | intron_variant | ||||||
PHEX | ENST00000475778.2 | n.775+11375T>A | intron_variant, non_coding_transcript_variant | 5 | |||||
PHEX | ENST00000683214.1 | n.545-18890T>A | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.147 AC: 16442AN: 111624Hom.: 1129 Cov.: 24 AF XY: 0.142 AC XY: 4790AN XY: 33824
GnomAD4 genome ? AF: 0.147 AC: 16443AN: 111680Hom.: 1126 Cov.: 24 AF XY: 0.142 AC XY: 4798AN XY: 33888
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at