rs764132367
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_005286.4(NPBWR2):c.887G>T(p.Ser296Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000479 in 1,460,688 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. S296N) has been classified as Uncertain significance.
Frequency
Consequence
NM_005286.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
NPBWR2 | ENST00000684052.1 | c.887G>T | p.Ser296Ile | missense_variant | Exon 2 of 2 | NM_005286.4 | ENSP00000508236.1 | |||
NPBWR2 | ENST00000369768.1 | c.887G>T | p.Ser296Ile | missense_variant | Exon 1 of 1 | 6 | ENSP00000358783.1 | |||
MYT1 | ENST00000659024.1 | c.-313+3390C>A | intron_variant | Intron 1 of 16 | ENSP00000499493.1 | |||||
MYT1 | ENST00000644172.2 | c.22+3390C>A | intron_variant | Intron 1 of 2 | ENSP00000493561.2 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD3 exomes AF: 0.00000800 AC: 2AN: 250106Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135630
GnomAD4 exome AF: 0.00000479 AC: 7AN: 1460688Hom.: 0 Cov.: 35 AF XY: 0.00000275 AC XY: 2AN XY: 726648
GnomAD4 genome Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at