chr11-117168609-T-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_002572.4(PAFAH1B2):c.*910T>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 0.00000661 in 151,272 control chromosomes in the GnomAD database, with no homozygous occurrence. 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_002572.4 3_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PAFAH1B2 | NM_002572.4 | c.*910T>A | 3_prime_UTR_variant | 6/6 | ENST00000527958.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PAFAH1B2 | ENST00000527958.6 | c.*910T>A | 3_prime_UTR_variant | 6/6 | 1 | NM_002572.4 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00000661 AC: 1AN: 151272Hom.: 0 Cov.: 26
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.00000219 AC: 2AN: 911784Hom.: 0 Cov.: 30 AF XY: 0.00000475 AC XY: 2AN XY: 420918
GnomAD4 genome AF: 0.00000661 AC: 1AN: 151272Hom.: 0 Cov.: 26 AF XY: 0.0000135 AC XY: 1AN XY: 73824
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at