rs4340795
Variant summary
Our verdict is Benign. Variant got -13 ACMG points: 0P and 13B. BP4_StrongBP6BA1
The NM_001033047.3(NPNT):āc.700A>Gā(p.Ile234Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.908 in 1,612,610 control chromosomes in the GnomAD database, including 667,032 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/20 in silico tools predict a benign outcome for this variant. Variant has been reported in Lovd as Benign (no stars). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_001033047.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -13 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NPNT | NM_001033047.3 | c.700A>G | p.Ile234Val | missense_variant | 7/12 | ENST00000379987.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NPNT | ENST00000379987.7 | c.700A>G | p.Ile234Val | missense_variant | 7/12 | 1 | NM_001033047.3 |
Frequencies
GnomAD3 genomes ? AF: 0.869 AC: 132041AN: 152022Hom.: 57936 Cov.: 32
GnomAD3 exomes AF: 0.920 AC: 230863AN: 251052Hom.: 106663 AF XY: 0.923 AC XY: 125194AN XY: 135672
GnomAD4 exome AF: 0.912 AC: 1332611AN: 1460470Hom.: 609080 Cov.: 35 AF XY: 0.914 AC XY: 664076AN XY: 726582
GnomAD4 genome ? AF: 0.868 AC: 132102AN: 152140Hom.: 57952 Cov.: 32 AF XY: 0.873 AC XY: 64963AN XY: 74380
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at