12-19440005-C-G
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_153207.5(AEBP2):c.306C>G(p.Asp102Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000101 in 1,519,714 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 (★).
Frequency
Consequence
NM_153207.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
AEBP2 | NM_153207.5 | c.306C>G | p.Asp102Glu | missense_variant | 1/8 | ENST00000266508.14 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
AEBP2 | ENST00000266508.14 | c.306C>G | p.Asp102Glu | missense_variant | 1/8 | 1 | NM_153207.5 | ||
AEBP2 | ENST00000398864.7 | c.306C>G | p.Asp102Glu | missense_variant | 1/9 | 1 | P1 | ||
AEBP2 | ENST00000538425.5 | c.-16-22505C>G | intron_variant | 4 | |||||
AEBP2 | ENST00000541908.5 | c.-16-22505C>G | intron_variant | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.000246 AC: 37AN: 150174Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000271 AC: 33AN: 121902Hom.: 0 AF XY: 0.000226 AC XY: 15AN XY: 66400
GnomAD4 exome AF: 0.0000854 AC: 117AN: 1369426Hom.: 0 Cov.: 35 AF XY: 0.0000843 AC XY: 57AN XY: 675996
GnomAD4 genome ? AF: 0.000246 AC: 37AN: 150288Hom.: 0 Cov.: 32 AF XY: 0.000300 AC XY: 22AN XY: 73362
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Apr 07, 2022 | The c.306C>G (p.D102E) alteration is located in exon 1 (coding exon 1) of the AEBP2 gene. This alteration results from a C to G substitution at nucleotide position 306, causing the aspartic acid (D) at amino acid position 102 to be replaced by a glutamic acid (E). 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