chr7-44104901-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001129.5(AEBP1):āc.236C>Gā(p.Pro79Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000388 in 1,545,590 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001129.5 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
AEBP1 | NM_001129.5 | c.236C>G | p.Pro79Arg | missense_variant | 1/21 | ENST00000223357.8 | |
AEBP1 | XM_011515162.2 | c.236C>G | p.Pro79Arg | missense_variant | 1/20 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
AEBP1 | ENST00000223357.8 | c.236C>G | p.Pro79Arg | missense_variant | 1/21 | 1 | NM_001129.5 | P1 | |
AEBP1 | ENST00000455443.5 | c.110C>G | p.Pro37Arg | missense_variant | 1/6 | 5 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152174Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000141 AC: 2AN: 142298Hom.: 0 AF XY: 0.0000129 AC XY: 1AN XY: 77408
GnomAD4 exome AF: 0.00000359 AC: 5AN: 1393416Hom.: 0 Cov.: 32 AF XY: 0.00000437 AC XY: 3AN XY: 686942
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152174Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74336
ClinVar
Submissions by phenotype
not provided Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Invitae | Mar 04, 2022 | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with AEBP1-related conditions. This variant is present in population databases (rs773952615, gnomAD 0.009%). This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 79 of the AEBP1 protein (p.Pro79Arg). - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at