NM_001385012.1:c.99_122dupTGGTGGCGGCACCGGGGGCAGCGG
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP3BS2
The NM_001385012.1(NBEA):c.99_122dupTGGTGGCGGCACCGGGGGCAGCGG(p.Gly41_Met42insGlyGlyGlyThrGlyGlySerGly) variant causes a disruptive inframe insertion change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000539 in 1,483,726 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001385012.1 disruptive_inframe_insertion
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
NBEA | NM_001385012.1 | c.99_122dupTGGTGGCGGCACCGGGGGCAGCGG | p.Gly41_Met42insGlyGlyGlyThrGlyGlySerGly | disruptive_inframe_insertion | Exon 1 of 59 | ENST00000379939.7 | NP_001371941.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000660 AC: 1AN: 151450Hom.: 0 Cov.: 31
GnomAD4 exome AF: 0.00000525 AC: 7AN: 1332276Hom.: 0 Cov.: 30 AF XY: 0.00000306 AC XY: 2AN XY: 652940
GnomAD4 genome AF: 0.00000660 AC: 1AN: 151450Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 73964
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at