NM_173474.4:c.610C>T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_173474.4(NTAN1):c.610C>T(p.Arg204Cys) variant causes a missense change. The variant allele was found at a frequency of 0.00000311 in 1,609,734 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_173474.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 151934Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000399 AC: 1AN: 250818Hom.: 0 AF XY: 0.00000738 AC XY: 1AN XY: 135590
GnomAD4 exome AF: 0.00000274 AC: 4AN: 1457800Hom.: 0 Cov.: 29 AF XY: 0.00000138 AC XY: 1AN XY: 725536
GnomAD4 genome AF: 0.00000658 AC: 1AN: 151934Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74190
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.610C>T (p.R204C) alteration is located in exon 8 (coding exon 8) of the NTAN1 gene. This alteration results from a C to T substitution at nucleotide position 610, causing the arginine (R) at amino acid position 204 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