NM_001397406.1:c.441G>T
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_001397406.1(FDX2):c.441G>T(p.Ser147Ser) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000868 in 1,613,030 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. S147S) has been classified as Likely benign.
Frequency
Consequence
NM_001397406.1 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FDX2 | NM_001397406.1 | c.441G>T | p.Ser147Ser | synonymous_variant | Exon 5 of 5 | ENST00000393708.3 | NP_001384335.1 | |
FDX2-ZGLP1 | NR_176051.1 | n.460G>T | non_coding_transcript_exon_variant | Exon 5 of 8 | ||||
FDX2-ZGLP1 | NR_176052.1 | n.521G>T | non_coding_transcript_exon_variant | Exon 5 of 9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FDX2 | ENST00000393708.3 | c.441G>T | p.Ser147Ser | synonymous_variant | Exon 5 of 5 | 1 | NM_001397406.1 | ENSP00000377311.5 | ||
ENSG00000167807 | ENST00000452032.6 | n.404G>T | non_coding_transcript_exon_variant | Exon 5 of 11 | 2 | ENSP00000408510.3 |
Frequencies
GnomAD3 genomes AF: 0.00000661 AC: 1AN: 151276Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251058Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135840
GnomAD4 exome AF: 0.00000889 AC: 13AN: 1461754Hom.: 0 Cov.: 32 AF XY: 0.00000963 AC XY: 7AN XY: 727180
GnomAD4 genome AF: 0.00000661 AC: 1AN: 151276Hom.: 0 Cov.: 31 AF XY: 0.0000135 AC XY: 1AN XY: 73842
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at