rs758022528
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 5P and 4B. PM1PM2PP2BP4_Strong
The ENST00000487476.5(NF1):c.1649G>A(p.Gly550Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,459,012 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 9/10 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. G550R) has been classified as Likely benign.
Frequency
Consequence
ENST00000487476.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NF1 | NM_001042492.3 | c.1641+8G>A | splice_region_variant, intron_variant | ENST00000358273.9 | |||
NF1 | NM_000267.3 | c.1641+8G>A | splice_region_variant, intron_variant | ||||
NF1 | NM_001128147.3 | c.1641+8G>A | splice_region_variant, intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NF1 | ENST00000358273.9 | c.1641+8G>A | splice_region_variant, intron_variant | 1 | NM_001042492.3 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.00000809 AC: 2AN: 247310Hom.: 0 AF XY: 0.0000150 AC XY: 2AN XY: 133484
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1459012Hom.: 0 Cov.: 32 AF XY: 0.00000276 AC XY: 2AN XY: 725640
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at