NM_006178.4:c.1366C>T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_006178.4(NSF):c.1366C>T(p.His456Tyr) 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 benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_006178.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
NSF | NM_006178.4 | c.1366C>T | p.His456Tyr | missense_variant | Exon 12 of 21 | ENST00000398238.8 | NP_006169.2 | |
LRRC37A2 | XM_024450773.2 | c.4809+144135C>T | intron_variant | Intron 10 of 10 | XP_024306541.1 | |||
NSF | NR_040116.2 | n.1433C>T | non_coding_transcript_exon_variant | Exon 11 of 20 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 22
GnomAD4 exome Data not reliable, filtered out with message: AC0;AS_VQSR AF: 0.00 AC: 0AN: 1353906Hom.: 0 Cov.: 27 AF XY: 0.00 AC XY: 0AN XY: 669852
GnomAD4 genome Cov.: 22
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1366C>T (p.H456Y) alteration is located in exon 12 (coding exon 12) of the NSF gene. This alteration results from a C to T substitution at nucleotide position 1366, causing the histidine (H) at amino acid position 456 to be replaced by a tyrosine (Y). 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
Publications
No publications associated with this variant yet.