2-70456400-C-T
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_003236.4(TGFA):c.304G>A(p.Ala102Thr) variant causes a missense change. The variant allele was found at a frequency of 0.0000126 in 1,587,004 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_003236.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TGFA | NM_003236.4 | c.304G>A | p.Ala102Thr | missense_variant | Exon 4 of 6 | ENST00000295400.11 | NP_003227.1 | |
TGFA | NM_001308158.2 | c.322G>A | p.Ala108Thr | missense_variant | Exon 4 of 6 | NP_001295087.1 | ||
TGFA | NM_001308159.2 | c.319G>A | p.Ala107Thr | missense_variant | Exon 4 of 6 | NP_001295088.1 | ||
TGFA | NM_001099691.3 | c.301G>A | p.Ala101Thr | missense_variant | Exon 4 of 6 | NP_001093161.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152252Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000291 AC: 6AN: 206018Hom.: 0 AF XY: 0.0000361 AC XY: 4AN XY: 110674
GnomAD4 exome AF: 0.0000112 AC: 16AN: 1434634Hom.: 0 Cov.: 31 AF XY: 0.0000183 AC XY: 13AN XY: 711214
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152370Hom.: 0 Cov.: 33 AF XY: 0.0000268 AC XY: 2AN XY: 74524
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.304G>A (p.A102T) alteration is located in exon 4 (coding exon 4) of the TGFA gene. This alteration results from a G to A substitution at nucleotide position 304, causing the alanine (A) at amino acid position 102 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at