17-9022650-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_004822.3(NTN1):c.277C>T(p.Leu93Phe) variant causes a missense change. The variant allele was found at a frequency of 0.00000212 in 1,412,240 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_004822.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
NTN1 | NM_004822.3 | c.277C>T | p.Leu93Phe | missense_variant | Exon 2 of 7 | ENST00000173229.7 | NP_004813.2 | |
NTN1 | XM_006721595.4 | c.277C>T | p.Leu93Phe | missense_variant | Exon 2 of 7 | XP_006721658.1 | ||
NTN1 | XM_047437096.1 | c.277C>T | p.Leu93Phe | missense_variant | Exon 2 of 7 | XP_047293052.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 0.00000212 AC: 3AN: 1412240Hom.: 0 Cov.: 31 AF XY: 0.00000286 AC XY: 2AN XY: 698378
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.277C>T (p.L93F) alteration is located in exon 2 (coding exon 1) of the NTN1 gene. This alteration results from a C to T substitution at nucleotide position 277, causing the leucine (L) at amino acid position 93 to be replaced by a phenylalanine (F). 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