11-110430182-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_004109.5(FDX1):āc.62C>Gā(p.Ala21Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000013 in 1,231,754 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 (ā ).
Frequency
Consequence
NM_004109.5 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FDX1 | NM_004109.5 | c.62C>G | p.Ala21Gly | missense_variant | 1/4 | ENST00000260270.3 | NP_004100.1 | |
FDX1 | XM_047426566.1 | c.8+829C>G | intron_variant | XP_047282522.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FDX1 | ENST00000260270.3 | c.62C>G | p.Ala21Gly | missense_variant | 1/4 | 1 | NM_004109.5 | ENSP00000260270 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00000659 AC: 1AN: 151692Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.0000139 AC: 15AN: 1080062Hom.: 0 Cov.: 30 AF XY: 0.0000136 AC XY: 7AN XY: 514738
GnomAD4 genome AF: 0.00000659 AC: 1AN: 151692Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74072
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 16, 2021 | The c.62C>G (p.A21G) alteration is located in exon 1 (coding exon 1) of the FDX1 gene. This alteration results from a C to G substitution at nucleotide position 62, causing the alanine (A) at amino acid position 21 to be replaced by a glycine (G). 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