X-73213996-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_021963.4(NAP1L2):c.497G>T(p.Cys166Phe) variant causes a missense change. The variant allele was found at a frequency of 0.00000273 in 1,098,080 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 1 hemizygotes in GnomAD. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_021963.4 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 Cov.: 22
GnomAD4 exome AF: 0.00000273 AC: 3AN: 1098080Hom.: 0 Cov.: 32 AF XY: 0.00000275 AC XY: 1AN XY: 363448
GnomAD4 genome Cov.: 22
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.497G>T (p.C166F) alteration is located in exon 1 (coding exon 1) of the NAP1L2 gene. This alteration results from a G to T substitution at nucleotide position 497, causing the cysteine (C) at amino acid position 166 to be replaced by a phenylalanine (F). 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
Publications
No publications associated with this variant yet.