NM_004179.3:c.232C>G
Variant summary
Our verdict is Uncertain significance. The variant received 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_004179.3(TPH1):c.232C>G(p.His78Asp) variant causes a missense change. The variant allele was found at a frequency of 0.00000342 in 1,460,492 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. H78Y) has been classified as Benign.
Frequency
Consequence
NM_004179.3 missense
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Uncertain_significance. The variant received 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD2 exomes AF: 0.0000119 AC: 3AN: 251222 AF XY: 0.00 show subpopulations
GnomAD4 exome AF: 0.00000342 AC: 5AN: 1460492Hom.: 0 Cov.: 30 AF XY: 0.00000138 AC XY: 1AN XY: 726610 show subpopulations ⚠️ The allele balance in gnomAD version 4 Exomes is significantly skewed from the expected value of 0.5.
Age Distribution
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at