1-179379463-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_144696.6(AXDND1):c.562G>T(p.Gly188Cys) variant causes a missense change. The variant allele was found at a frequency of 0.0000093 in 1,613,354 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_144696.6 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: 0.0000723 AC: 11AN: 152056Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000279 AC: 7AN: 251186Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135794
GnomAD4 exome AF: 0.00000274 AC: 4AN: 1461298Hom.: 0 Cov.: 30 AF XY: 0.00000138 AC XY: 1AN XY: 726964
GnomAD4 genome AF: 0.0000723 AC: 11AN: 152056Hom.: 0 Cov.: 32 AF XY: 0.0000808 AC XY: 6AN XY: 74264
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.562G>T (p.G188C) alteration is located in exon 6 (coding exon 5) of the AXDND1 gene. This alteration results from a G to T substitution at nucleotide position 562, causing the glycine (G) at amino acid position 188 to be replaced by a cysteine (C). 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