X-147928762-C-T
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP4BS2
The NM_002024.6(FMR1):c.374C>T(p.Thr125Ile) variant causes a missense change. The variant allele was found at a frequency of 0.00000456 in 1,097,158 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 2 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Synonymous variant affecting the same amino acid position (i.e. T125T) has been classified as Likely benign.
Frequency
Consequence
NM_002024.6 missense
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 |
---|---|---|---|---|---|---|---|
FMR1 | NM_002024.6 | c.374C>T | p.Thr125Ile | missense_variant | 5/17 | ENST00000370475.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FMR1 | ENST00000370475.9 | c.374C>T | p.Thr125Ile | missense_variant | 5/17 | 1 | NM_002024.6 | P3 |
Frequencies
GnomAD3 genomes Cov.: 23
GnomAD3 exomes AF: 0.00000546 AC: 1AN: 183152Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 67694
GnomAD4 exome AF: 0.00000456 AC: 5AN: 1097158Hom.: 0 Cov.: 29 AF XY: 0.00000551 AC XY: 2AN XY: 362662
GnomAD4 genome Cov.: 23
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Genetic Services Laboratory, University of Chicago | Jun 29, 2015 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at