13-49528674-G-A
Variant summary
Our verdict is Benign. Variant got -13 ACMG points: 0P and 13B. BP4_StrongBP6BA1
The NM_001040443.3(PHF11):c.*9G>A variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.512 in 1,573,548 control chromosomes in the GnomAD database, including 209,815 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (no stars).
Frequency
Consequence
NM_001040443.3 3_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -13 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.476 AC: 72294AN: 151872Hom.: 17641 Cov.: 32
GnomAD3 exomes AF: 0.496 AC: 112360AN: 226708Hom.: 28392 AF XY: 0.491 AC XY: 60336AN XY: 122778
GnomAD4 exome AF: 0.515 AC: 732671AN: 1421560Hom.: 192163 Cov.: 26 AF XY: 0.511 AC XY: 361893AN XY: 707694
GnomAD4 genome AF: 0.476 AC: 72339AN: 151988Hom.: 17652 Cov.: 32 AF XY: 0.473 AC XY: 35114AN XY: 74276
ClinVar
Submissions by phenotype
PHF11-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at