rs554966762
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_003236.4(TGFA):āc.416G>Cā(p.Arg139Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,756 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. R139Q) has been classified as Uncertain significance.
Frequency
Consequence
NM_003236.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TGFA | NM_003236.4 | c.416G>C | p.Arg139Pro | missense_variant | Exon 5 of 6 | ENST00000295400.11 | NP_003227.1 | |
TGFA | NM_001308158.2 | c.434G>C | p.Arg145Pro | missense_variant | Exon 5 of 6 | NP_001295087.1 | ||
TGFA | NM_001308159.2 | c.431G>C | p.Arg144Pro | missense_variant | Exon 5 of 6 | NP_001295088.1 | ||
TGFA | NM_001099691.3 | c.413G>C | p.Arg138Pro | missense_variant | Exon 5 of 6 | NP_001093161.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251306Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135810
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461756Hom.: 0 Cov.: 30 AF XY: 0.00000138 AC XY: 1AN XY: 727172
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at