8-22713422-T-C
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_144962.3(PEBP4):āc.632A>Gā(p.Glu211Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.312 in 1,610,552 control chromosomes in the GnomAD database, including 79,808 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 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_144962.3 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PEBP4 | NM_144962.3 | c.632A>G | p.Glu211Gly | missense_variant | 7/7 | ENST00000256404.8 | NP_659399.2 | |
PEBP4 | NM_001363233.2 | c.632A>G | p.Glu211Gly | missense_variant | 7/7 | NP_001350162.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PEBP4 | ENST00000256404.8 | c.632A>G | p.Glu211Gly | missense_variant | 7/7 | 1 | NM_144962.3 | ENSP00000256404 | P1 | |
ENST00000523627.1 | n.164+23109T>C | intron_variant, non_coding_transcript_variant | 4 |
Frequencies
GnomAD3 genomes AF: 0.306 AC: 46527AN: 151968Hom.: 7329 Cov.: 33
GnomAD3 exomes AF: 0.316 AC: 77811AN: 246620Hom.: 13010 AF XY: 0.306 AC XY: 40925AN XY: 133894
GnomAD4 exome AF: 0.312 AC: 455549AN: 1458466Hom.: 72469 Cov.: 36 AF XY: 0.309 AC XY: 224125AN XY: 725562
GnomAD4 genome AF: 0.306 AC: 46573AN: 152086Hom.: 7339 Cov.: 33 AF XY: 0.308 AC XY: 22902AN XY: 74352
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at