2-218981957-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_017521.3(FEV):c.427C>T(p.His143Tyr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000323 in 1,550,052 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_017521.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FEV | ENST00000295727.2 | c.427C>T | p.His143Tyr | missense_variant | 3/3 | 1 | NM_017521.3 | ENSP00000295727.1 | ||
LINC00608 | ENST00000627043.2 | n.1201+2577G>A | intron_variant | 5 | ||||||
FEV | ENST00000470119.1 | n.*1C>T | downstream_gene_variant | 2 |
Frequencies
GnomAD3 genomes AF: 0.00000660 AC: 1AN: 151562Hom.: 0 Cov.: 33
GnomAD4 exome AF: 0.00000286 AC: 4AN: 1398490Hom.: 0 Cov.: 31 AF XY: 0.00000576 AC XY: 4AN XY: 694958
GnomAD4 genome AF: 0.00000660 AC: 1AN: 151562Hom.: 0 Cov.: 33 AF XY: 0.0000135 AC XY: 1AN XY: 74020
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 10, 2024 | The c.427C>T (p.H143Y) alteration is located in exon 3 (coding exon 3) of the FEV gene. This alteration results from a C to T substitution at nucleotide position 427, causing the histidine (H) at amino acid position 143 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at