11-61796065-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_004111.6(FEN1):c.704G>A(p.Cys235Tyr) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000274 in 1,461,888 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (no stars).
Frequency
Consequence
NM_004111.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FEN1 | NM_004111.6 | c.704G>A | p.Cys235Tyr | missense_variant | 2/2 | ENST00000305885.3 | NP_004102.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FEN1 | ENST00000305885.3 | c.704G>A | p.Cys235Tyr | missense_variant | 2/2 | 1 | NM_004111.6 | ENSP00000305480 | P1 | |
FEN1 | ENST00000535307.1 | c.128G>A | p.Cys43Tyr | missense_variant | 1/2 | 2 | ENSP00000460402 | |||
FADS2 | ENST00000574708.5 | n.49+3037G>A | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 0.00000274 AC: 4AN: 1461888Hom.: 0 Cov.: 31 AF XY: 0.00000413 AC XY: 3AN XY: 727246
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
Non-immune hydrops fetalis Uncertain:1
Uncertain significance, no assertion criteria provided | research | Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center | Apr 29, 2021 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.