chr2-203068395-G-T
Variant summary
Our verdict is Uncertain significance. The variant received 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001378026.1(NBEAL1):c.518G>T(p.Arg173Leu) variant causes a missense, splice region change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000133 in 1,503,964 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 1/1 splice prediction tools predict no significant impact on normal splicing. 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. R173Q) has been classified as Uncertain significance.
Frequency
Consequence
NM_001378026.1 missense, splice_region
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Uncertain_significance. The variant received 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
NBEAL1 | NM_001378026.1 | c.518G>T | p.Arg173Leu | missense_variant, splice_region_variant | Exon 7 of 56 | ENST00000683969.1 | NP_001364955.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
NBEAL1 | ENST00000683969.1 | c.518G>T | p.Arg173Leu | missense_variant, splice_region_variant | Exon 7 of 56 | NM_001378026.1 | ENSP00000508055.1 |
Frequencies
GnomAD3 genomes AF: 0.00000659 AC: 1AN: 151738Hom.: 0 Cov.: 32 show subpopulations
GnomAD4 exome AF: 7.40e-7 AC: 1AN: 1352226Hom.: 0 Cov.: 26 AF XY: 0.00 AC XY: 0AN XY: 665818 show subpopulations
GnomAD4 genome AF: 0.00000659 AC: 1AN: 151738Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74066 show subpopulations
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at