rs587778336
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_021922.3(FANCE):c.94G>A(p.Ala32Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000658 in 151,980 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as not provided (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. A32E) has been classified as Uncertain significance.
Frequency
Consequence
NM_021922.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FANCE | NM_021922.3 | c.94G>A | p.Ala32Thr | missense_variant | 1/10 | ENST00000229769.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FANCE | ENST00000229769.3 | c.94G>A | p.Ala32Thr | missense_variant | 1/10 | 1 | NM_021922.3 | P1 | |
FANCE | ENST00000696264.1 | c.94G>A | p.Ala32Thr | missense_variant | 1/8 | ||||
FANCE | ENST00000648059.1 | c.94G>A | p.Ala32Thr | missense_variant, NMD_transcript_variant | 1/11 | ||||
FANCE | ENST00000696265.1 | c.94G>A | p.Ala32Thr | missense_variant, NMD_transcript_variant | 1/9 |
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 151980Hom.: 0 Cov.: 33
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1105166Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 528306
GnomAD4 genome AF: 0.00000658 AC: 1AN: 151980Hom.: 0 Cov.: 33 AF XY: 0.0000135 AC XY: 1AN XY: 74254
ClinVar
Submissions by phenotype
not specified Other:1
not provided, no classification provided | reference population | ITMI | Sep 19, 2013 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at