rs17304572
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_080574.4(BPIFA2):āc.337A>Gā(p.Lys113Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00849 in 1,614,144 control chromosomes in the GnomAD database, including 198 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/20 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 same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_080574.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
BPIFA2 | NM_080574.4 | c.337A>G | p.Lys113Glu | missense_variant | 4/9 | ENST00000354932.6 | |
BPIFA2 | NM_001319164.2 | c.337A>G | p.Lys113Glu | missense_variant | 4/9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
BPIFA2 | ENST00000354932.6 | c.337A>G | p.Lys113Glu | missense_variant | 4/9 | 1 | NM_080574.4 | P1 | |
BPIFA2 | ENST00000253362.6 | c.337A>G | p.Lys113Glu | missense_variant | 4/9 | 1 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00821 AC: 1250AN: 152180Hom.: 15 Cov.: 32
GnomAD3 exomes AF: 0.0146 AC: 3680AN: 251474Hom.: 122 AF XY: 0.0119 AC XY: 1613AN XY: 135904
GnomAD4 exome AF: 0.00851 AC: 12439AN: 1461846Hom.: 180 Cov.: 30 AF XY: 0.00786 AC XY: 5719AN XY: 727222
GnomAD4 genome ? AF: 0.00827 AC: 1260AN: 152298Hom.: 18 Cov.: 32 AF XY: 0.00823 AC XY: 613AN XY: 74478
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at