rs1216426444
Variant summary
Our verdict is Uncertain significance. Variant got 5 ACMG points: 5P and 0B. PM1PM2PP3
The NM_000135.4(FANCA):c.2728C>T(p.Leu910Phe) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. L910I) has been classified as Uncertain significance.
Frequency
Consequence
NM_000135.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FANCA | NM_000135.4 | c.2728C>T | p.Leu910Phe | missense_variant | 28/43 | ENST00000389301.8 | |
FANCA | NM_001286167.3 | c.2728C>T | p.Leu910Phe | missense_variant | 28/43 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FANCA | ENST00000389301.8 | c.2728C>T | p.Leu910Phe | missense_variant | 28/43 | 1 | NM_000135.4 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD4 exome Cov.: 32
GnomAD4 genome ? Cov.: 33
ClinVar
Submissions by phenotype
Fanconi anemia complementation group A Pathogenic:1
Likely pathogenic, no assertion criteria provided | clinical testing | Department of Pathology and Genetics, University of Gothenburg | Jan 01, 2017 | - - |
Neuroblastoma Uncertain:1
Uncertain significance, no assertion criteria provided | clinical testing | Department of Pathology and Genetics, University of Gothenburg | Jan 01, 2017 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at