5-126601017-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_032177.4(PHAX):c.55G>T(p.Asp19Tyr) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000784 in 1,606,774 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_032177.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000460 AC: 7AN: 152220Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000413 AC: 10AN: 241960Hom.: 0 AF XY: 0.0000607 AC XY: 8AN XY: 131760
GnomAD4 exome AF: 0.0000818 AC: 119AN: 1454554Hom.: 0 Cov.: 30 AF XY: 0.0000787 AC XY: 57AN XY: 723828
GnomAD4 genome AF: 0.0000460 AC: 7AN: 152220Hom.: 0 Cov.: 33 AF XY: 0.0000403 AC XY: 3AN XY: 74366
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.55G>T (p.D19Y) alteration is located in exon 1 (coding exon 1) of the PHAX gene. This alteration results from a G to T substitution at nucleotide position 55, causing the aspartic acid (D) at amino acid position 19 to be replaced by a tyrosine (Y). 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