rs1854077
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBS1BS2
The NM_001389617.1(NAV1):c.-143-4829A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0464 in 152,282 control chromosomes in the GnomAD database, including 186 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.046 ( 186 hom., cov: 33)
Consequence
NAV1
NM_001389617.1 intron
NM_001389617.1 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.173
Genes affected
NAV1 (HGNC:15989): (neuron navigator 1) This gene belongs to the neuron navigator family and is expressed predominantly in the nervous system. The encoded protein contains coiled-coil domains and a conserved AAA domain characteristic for ATPases associated with a variety of cellular activities. This gene is similar to unc-53, a Caenorhabditis elegans gene involved in axon guidance. The exact function of this gene is not known, but it is thought to play a role in in neuronal development and regeneration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -12 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.89).
BS1
?
Variant frequency is greater than expected in population nfe. gnomad4 allele frequency = 0.0464 (7060/152282) while in subpopulation NFE AF= 0.051 (3468/68030). AF 95% confidence interval is 0.0496. There are 186 homozygotes in gnomad4. There are 3399 alleles in male gnomad4 subpopulation. This position pass quality control queck.
BS2
?
High AC in GnomAd at 7059 AD gene.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NAV1 | NM_001389617.1 | c.-143-4829A>G | intron_variant | ENST00000685211.1 | |||
NAV1 | NM_001389615.1 | c.-143-4829A>G | intron_variant | ||||
NAV1 | NM_001389616.1 | c.-32-39143A>G | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NAV1 | ENST00000685211.1 | c.-143-4829A>G | intron_variant | NM_001389617.1 | P2 | ||||
ENST00000648727.1 | n.713A>G | non_coding_transcript_exon_variant | 2/2 |
Frequencies
GnomAD3 genomes ? AF: 0.0464 AC: 7059AN: 152164Hom.: 185 Cov.: 33
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GnomAD4 genome ? AF: 0.0464 AC: 7060AN: 152282Hom.: 186 Cov.: 33 AF XY: 0.0456 AC XY: 3399AN XY: 74458
GnomAD4 genome
?
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ClinVar
Not reported inComputational scores
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Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
Cadd
Benign
Dann
Benign
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at