rs1555614832
Variant summary
Our verdict is Uncertain significance. Variant got 5 ACMG points: 5P and 0B. PM1PM5PP2
The NM_001042492.3(NF1):c.3238C>A(p.Leu1080Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. 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. L1080P) has been classified as Likely pathogenic.
Frequency
Consequence
NM_001042492.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NF1 | NM_001042492.3 | c.3238C>A | p.Leu1080Ile | missense_variant | 25/58 | ENST00000358273.9 | |
NF1 | NM_000267.3 | c.3238C>A | p.Leu1080Ile | missense_variant | 25/57 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NF1 | ENST00000358273.9 | c.3238C>A | p.Leu1080Ile | missense_variant | 25/58 | 1 | NM_001042492.3 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 27
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 8.11e-7 AC: 1AN: 1232568Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 616166
GnomAD4 genome ? Cov.: 27
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.