12-71944462-T-G
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_173353.4(TPH2):āc.424T>Gā(p.Trp142Gly) variant causes a missense change. The variant allele was found at a frequency of 0.00000821 in 1,461,688 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_173353.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000239 AC: 6AN: 251254Hom.: 0 AF XY: 0.0000295 AC XY: 4AN XY: 135784
GnomAD4 exome AF: 0.00000821 AC: 12AN: 1461688Hom.: 0 Cov.: 32 AF XY: 0.00000963 AC XY: 7AN XY: 727144
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.424T>G (p.W142G) alteration is located in exon 3 (coding exon 3) of the TPH2 gene. This alteration results from a T to G substitution at nucleotide position 424, causing the tryptophan (W) at amino acid position 142 to be replaced by a glycine (G). 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