chr12-71972526-C-T
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_173353.4(TPH2):c.616C>T(p.Pro206Ser) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00149 in 1,614,092 control chromosomes in the GnomAD database, including 6 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★★).
Frequency
Consequence
NM_173353.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00105 AC: 160AN: 152156Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00119 AC: 300AN: 251428Hom.: 0 AF XY: 0.00124 AC XY: 168AN XY: 135892
GnomAD4 exome AF: 0.00153 AC: 2243AN: 1461818Hom.: 6 Cov.: 32 AF XY: 0.00155 AC XY: 1126AN XY: 727218
GnomAD4 genome AF: 0.00105 AC: 160AN: 152274Hom.: 0 Cov.: 32 AF XY: 0.00101 AC XY: 75AN XY: 74468
ClinVar
Submissions by phenotype
Tryptophan 5-monooxygenase deficiency Uncertain:1
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. -
Major depressive disorder;C2751802:Attention deficit-hyperactivity disorder, susceptibility to, 7 Uncertain:1
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Bipolar affective disorder, susceptibility to Other:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at