rs202221581
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_003227.4(TFR2):c.1118G>T(p.Gly373Val) variant causes a missense change. The variant allele was found at a frequency of 0.00000126 in 1,583,482 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. G373D) has been classified as Uncertain significance.
Frequency
Consequence
NM_003227.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TFR2 | NM_003227.4 | c.1118G>T | p.Gly373Val | missense_variant | 9/18 | ENST00000223051.8 | |
LOC124901709 | XR_007060454.1 | n.434-115C>A | intron_variant, non_coding_transcript_variant | ||||
TFR2 | NM_001206855.3 | c.605G>T | p.Gly202Val | missense_variant | 6/15 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TFR2 | ENST00000223051.8 | c.1118G>T | p.Gly373Val | missense_variant | 9/18 | 1 | NM_003227.4 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152120Hom.: 0 Cov.: 32
GnomAD4 exome AF: 6.99e-7 AC: 1AN: 1431362Hom.: 0 Cov.: 31 AF XY: 0.00000141 AC XY: 1AN XY: 711194
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152120Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74298
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at