2-73641099-G-A
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_003960.4(NAT8):c.530C>T(p.Thr177Ile) variant causes a missense change. The variant allele was found at a frequency of 0.00104 in 1,614,132 control chromosomes in the GnomAD database, including 3 homozygotes. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_003960.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000532 AC: 81AN: 152146Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000370 AC: 93AN: 251428Hom.: 0 AF XY: 0.000383 AC XY: 52AN XY: 135884
GnomAD4 exome AF: 0.00109 AC: 1596AN: 1461868Hom.: 3 Cov.: 30 AF XY: 0.00105 AC XY: 764AN XY: 727238
GnomAD4 genome AF: 0.000532 AC: 81AN: 152264Hom.: 0 Cov.: 32 AF XY: 0.000443 AC XY: 33AN XY: 74462
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.530C>T (p.T177I) alteration is located in exon 2 (coding exon 1) of the NAT8 gene. This alteration results from a C to T substitution at nucleotide position 530, causing the threonine (T) at amino acid position 177 to be replaced by an isoleucine (I). 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