rs187119131
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 2P and 14B. PM2BP4_ModerateBP6_Very_StrongBS1
The NM_003227.4(TFR2):āc.590A>Gā(p.Tyr197Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000862 in 1,612,554 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (ā ā ). Synonymous variant affecting the same amino acid position (i.e. Y197Y) has been classified as Likely benign.
Frequency
Consequence
NM_003227.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TFR2 | NM_003227.4 | c.590A>G | p.Tyr197Cys | missense_variant | 4/18 | ENST00000223051.8 | |
TFR2 | NM_001206855.3 | c.77A>G | p.Tyr26Cys | missense_variant | 1/15 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TFR2 | ENST00000223051.8 | c.590A>G | p.Tyr197Cys | missense_variant | 4/18 | 1 | NM_003227.4 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000592 AC: 9AN: 152036Hom.: 0 Cov.: 30
GnomAD3 exomes AF: 0.000201 AC: 49AN: 243956Hom.: 0 AF XY: 0.000173 AC XY: 23AN XY: 132958
GnomAD4 exome AF: 0.0000890 AC: 130AN: 1460400Hom.: 1 Cov.: 33 AF XY: 0.0000702 AC XY: 51AN XY: 726508
GnomAD4 genome AF: 0.0000592 AC: 9AN: 152154Hom.: 0 Cov.: 30 AF XY: 0.0000806 AC XY: 6AN XY: 74416
ClinVar
Submissions by phenotype
Hereditary hemochromatosis Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Jan 31, 2024 | - - |
TFR2-related disorder Benign:1
Likely benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Aug 30, 2023 | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at