rs769692116
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_004688.3(NMI):āc.442T>Gā(p.Phe148Val) variant causes a missense change. The variant allele was found at a frequency of 0.0000174 in 1,612,582 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_004688.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
NMI | NM_004688.3 | c.442T>G | p.Phe148Val | missense_variant | Exon 5 of 8 | ENST00000243346.10 | NP_004679.2 | |
NMI | XM_047446270.1 | c.715T>G | p.Phe239Val | missense_variant | Exon 5 of 8 | XP_047302226.1 | ||
NMI | XM_005246941.3 | c.442T>G | p.Phe148Val | missense_variant | Exon 5 of 8 | XP_005246998.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152210Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000478 AC: 12AN: 251076Hom.: 1 AF XY: 0.0000663 AC XY: 9AN XY: 135720
GnomAD4 exome AF: 0.0000164 AC: 24AN: 1460372Hom.: 1 Cov.: 30 AF XY: 0.0000234 AC XY: 17AN XY: 726640
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152210Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74358
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.442T>G (p.F148V) alteration is located in exon 5 (coding exon 4) of the NMI gene. This alteration results from a T to G substitution at nucleotide position 442, causing the phenylalanine (F) at amino acid position 148 to be replaced by a valine (V). 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