chr11-126269215-G-C
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 2P and 7B. PM2BP4_StrongBP6_ModerateBP7
The NM_017547.4(FOXRED1):c.9G>C(p.Arg3=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000254 in 1,613,504 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★). Synonymous variant affecting the same amino acid position (i.e. R3R) has been classified as Likely benign.
Frequency
Consequence
NM_017547.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FOXRED1 | NM_017547.4 | c.9G>C | p.Arg3= | synonymous_variant | 1/11 | ENST00000263578.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FOXRED1 | ENST00000263578.10 | c.9G>C | p.Arg3= | synonymous_variant | 1/11 | 1 | NM_017547.4 | P3 |
Frequencies
GnomAD3 genomes ? AF: 0.0000591 AC: 9AN: 152272Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.0000479 AC: 12AN: 250262Hom.: 0 AF XY: 0.0000590 AC XY: 8AN XY: 135598
GnomAD4 exome AF: 0.0000219 AC: 32AN: 1461232Hom.: 0 Cov.: 37 AF XY: 0.0000234 AC XY: 17AN XY: 726978
GnomAD4 genome ? AF: 0.0000591 AC: 9AN: 152272Hom.: 0 Cov.: 34 AF XY: 0.0000269 AC XY: 2AN XY: 74398
ClinVar
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Jan 12, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at