chrX-79171470-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_032553.3(GPR174):c.463C>T(p.Leu155Phe) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000911 in 1,097,911 control chromosomes in the GnomAD database, with no homozygous occurrence. There are no hemizygote samples in GnomAD. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_032553.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
GPR174 | NM_032553.3 | c.463C>T | p.Leu155Phe | missense_variant | Exon 3 of 3 | ENST00000645147.2 | NP_115942.1 | |
GPR174 | XM_047442579.1 | c.463C>T | p.Leu155Phe | missense_variant | Exon 3 of 3 | XP_047298535.1 | ||
GPR174 | XM_047442580.1 | c.463C>T | p.Leu155Phe | missense_variant | Exon 2 of 2 | XP_047298536.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 22
GnomAD3 exomes AF: 0.00000547 AC: 1AN: 182871Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 67533
GnomAD4 exome AF: 9.11e-7 AC: 1AN: 1097911Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 363299
GnomAD4 genome Cov.: 22
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.463C>T (p.L155F) alteration is located in exon 1 (coding exon 1) of the GPR174 gene. This alteration results from a C to T substitution at nucleotide position 463, causing the leucine (L) at amino acid position 155 to be replaced by a phenylalanine (F). 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