rs1060502724
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_003227.4(TFR2):c.2036G>A(p.Gly679Glu) variant causes a missense change. The variant allele was found at a frequency of 0.00000258 in 1,547,998 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Synonymous variant affecting the same amino acid position (i.e. G679G) has been classified as Likely benign.
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.2036G>A | p.Gly679Glu | missense_variant | 17/18 | ENST00000223051.8 | |
LOC124901709 | XR_007060454.1 | n.434-4293C>T | intron_variant, non_coding_transcript_variant | ||||
TFR2 | NM_001206855.3 | c.1523G>A | p.Gly508Glu | missense_variant | 14/15 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TFR2 | ENST00000223051.8 | c.2036G>A | p.Gly679Glu | missense_variant | 17/18 | 1 | NM_003227.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00000657 AC: 1AN: 152198Hom.: 0 Cov.: 33
GnomAD4 exome AF: 0.00000215 AC: 3AN: 1395800Hom.: 0 Cov.: 36 AF XY: 0.00000290 AC XY: 2AN XY: 688698
GnomAD4 genome ? AF: 0.00000657 AC: 1AN: 152198Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74352
ClinVar
Submissions by phenotype
Hereditary hemochromatosis Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Invitae | Aug 31, 2021 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at