17-81559289-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_017921.4(NPLOC4):āc.1797C>Gā(p.His599Gln) variant causes a missense change. The variant allele was found at a frequency of 0.0000237 in 1,605,496 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_017921.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
NPLOC4 | NM_017921.4 | c.1797C>G | p.His599Gln | missense_variant | Exon 17 of 17 | ENST00000331134.11 | NP_060391.2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152236Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000305 AC: 7AN: 229798Hom.: 0 AF XY: 0.0000400 AC XY: 5AN XY: 125070
GnomAD4 exome AF: 0.0000234 AC: 34AN: 1453260Hom.: 0 Cov.: 30 AF XY: 0.0000235 AC XY: 17AN XY: 722046
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152236Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74384
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1797C>G (p.H599Q) alteration is located in exon 17 (coding exon 17) of the NPLOC4 gene. This alteration results from a C to G substitution at nucleotide position 1797, causing the histidine (H) at amino acid position 599 to be replaced by a glutamine (Q). 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