chr17-46713913-C-T
Variant summary
Our verdict is Pathogenic. Variant got 18 ACMG points: 18P and 0B. PS1_ModeratePM2PM5PP3_StrongPP5_Very_Strong
The NM_006178.4(NSF):c.1688C>T(p.Pro563Leu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Likely pathogenic (★★). Another nucleotide change resulting in the same amino acid substitution has been previously reported as Likely pathogenic in UniProt. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. P563R) has been classified as Likely pathogenic.
Frequency
Consequence
NM_006178.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Pathogenic. Variant got 18 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
NSF | NM_006178.4 | c.1688C>T | p.Pro563Leu | missense_variant | Exon 15 of 21 | ENST00000398238.8 | NP_006169.2 | |
LRRC37A2 | XM_024450773.2 | c.4809+163394C>T | intron_variant | Intron 10 of 10 | XP_024306541.1 | |||
NSF | NR_040116.2 | n.1755C>T | non_coding_transcript_exon_variant | Exon 14 of 20 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1460200Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 726354
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
Developmental and epileptic encephalopathy 96 Pathogenic:3
- -
- -
PM2_Supporting+PP3_Moderate+PP2+PS4_Supporting+PS2+PP4 -
not provided Pathogenic:1
NSF: PS2, PM2, PP3 -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.