16-15055920-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_173474.4(NTAN1):āc.52G>Cā(p.Asp18His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000673 in 1,232,694 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_173474.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 151986Hom.: 0 Cov.: 33
GnomAD4 exome AF: 0.0000740 AC: 80AN: 1080708Hom.: 0 Cov.: 29 AF XY: 0.0000763 AC XY: 39AN XY: 510836
GnomAD4 genome AF: 0.0000197 AC: 3AN: 151986Hom.: 0 Cov.: 33 AF XY: 0.0000135 AC XY: 1AN XY: 74208
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.52G>C (p.D18H) alteration is located in exon 1 (coding exon 1) of the NTAN1 gene. This alteration results from a G to C substitution at nucleotide position 52, causing the aspartic acid (D) at amino acid position 18 to be replaced by a histidine (H). 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