chr19-42297251-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_002573.4(PAFAH1B3):c.523G>A(p.Asp175Asn) variant causes a missense change. The variant allele was found at a frequency of 0.0000601 in 1,613,984 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_002573.4 missense
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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PAFAH1B3 | NM_002573.4 | c.523G>A | p.Asp175Asn | missense_variant | Exon 5 of 5 | ENST00000262890.8 | NP_002564.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000145 AC: 22AN: 152182Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000517 AC: 13AN: 251306Hom.: 0 AF XY: 0.0000589 AC XY: 8AN XY: 135888
GnomAD4 exome AF: 0.0000513 AC: 75AN: 1461802Hom.: 0 Cov.: 31 AF XY: 0.0000536 AC XY: 39AN XY: 727202
GnomAD4 genome AF: 0.000145 AC: 22AN: 152182Hom.: 0 Cov.: 32 AF XY: 0.000242 AC XY: 18AN XY: 74344
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.523G>A (p.D175N) alteration is located in exon 6 (coding exon 5) of the PAFAH1B3 gene. This alteration results from a G to A substitution at nucleotide position 523, causing the aspartic acid (D) at amino acid position 175 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at