rs431905492
Positions:
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001446.5(FABP7):c.239del(p.Asn80ThrfsTer27) variant causes a frameshift change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as not provided (no stars). Variant results in nonsense mediated mRNA decay.
Frequency
Genomes: not found (cov: 33)
Consequence
FABP7
NM_001446.5 frameshift
NM_001446.5 frameshift
Scores
Not classified
Clinical Significance
Conservation
PhyloP100: 0.193
Genes affected
FABP7 (HGNC:3562): (fatty acid binding protein 7) The gene encodes a small, highly conserved cytoplasmic protein that bind long-chain fatty acids and other hydrophobic ligands. The encoded protein is important in the establishment of the radial glial fiber in the developing brain. Alternative splicing and promoter usage results in multiple transcript variants encoding different isoforms. Pseudogenes of this gene are found on multiple chromosomes. [provided by RefSeq, Jan 2016]
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ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 2 ACMG points.
PM2
?
Very rare variant in population databases, with high coverage;
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FABP7 | NM_001446.5 | c.239del | p.Asn80ThrfsTer27 | frameshift_variant | 2/4 | ENST00000368444.8 | |
FABP7 | NM_001319039.2 | c.239del | p.Asn80ThrfsTer27 | frameshift_variant | 2/3 | ||
FABP7 | NM_001319042.2 | c.227del | p.Asn76ThrfsTer27 | frameshift_variant | 2/4 | ||
FABP7 | NM_001319041.2 | c.239del | p.Asn80ThrfsTer4 | frameshift_variant | 2/2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FABP7 | ENST00000368444.8 | c.239del | p.Asn80ThrfsTer27 | frameshift_variant | 2/4 | 1 | NM_001446.5 | P1 | |
FABP7 | ENST00000356535.4 | c.239del | p.Asn80ThrfsTer27 | frameshift_variant | 2/3 | 1 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD3 genomes
?
Cov.:
33
GnomAD4 exome Cov.: 33
GnomAD4 exome
Cov.:
33
GnomAD4 genome ? Cov.: 33
GnomAD4 genome
?
Cov.:
33
ClinVar
Significance: not provided
Submissions summary: Other:1
Revision: no classification provided
LINK: link
Submissions by phenotype
not provided Other:1
not provided, no classification provided | literature only | Laboratory for Molecular Psychiatry, RIKEN | - | - - |
Computational scores
Source:
Name
Calibrated prediction
Score
Prediction
Splicing
Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at