NM_001195215.2:c.547A>G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001195215.2(DENND1B):āc.547A>Gā(p.Thr183Ala) variant causes a missense change. The variant allele was found at a frequency of 0.0000664 in 1,566,106 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. T183P) has been classified as Uncertain significance.
Frequency
Consequence
NM_001195215.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000461 AC: 7AN: 151844Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000950 AC: 22AN: 231586Hom.: 0 AF XY: 0.0000792 AC XY: 10AN XY: 126338
GnomAD4 exome AF: 0.0000686 AC: 97AN: 1414144Hom.: 0 Cov.: 27 AF XY: 0.0000684 AC XY: 48AN XY: 701758
GnomAD4 genome AF: 0.0000461 AC: 7AN: 151962Hom.: 0 Cov.: 32 AF XY: 0.0000404 AC XY: 3AN XY: 74306
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at