2-70465718-G-T
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_003236.4(TGFA):c.113C>A(p.Ala38Glu) variant causes a missense change. The variant allele was found at a frequency of 0.0000173 in 1,614,070 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.113C>A | p.Ala38Glu | missense_variant | Exon 3 of 6 | ENST00000295400.11 | NP_003227.1 | |
TGFA | NM_001308158.2 | c.131C>A | p.Ala44Glu | missense_variant | Exon 3 of 6 | NP_001295087.1 | ||
TGFA | NM_001308159.2 | c.128C>A | p.Ala43Glu | missense_variant | Exon 3 of 6 | NP_001295088.1 | ||
TGFA | NM_001099691.3 | c.110C>A | p.Ala37Glu | missense_variant | Exon 3 of 6 | NP_001093161.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000394 AC: 6AN: 152138Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000677 AC: 17AN: 251214Hom.: 0 AF XY: 0.0000663 AC XY: 9AN XY: 135790
GnomAD4 exome AF: 0.0000150 AC: 22AN: 1461814Hom.: 0 Cov.: 30 AF XY: 0.0000138 AC XY: 10AN XY: 727214
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152256Hom.: 0 Cov.: 32 AF XY: 0.0000537 AC XY: 4AN XY: 74452
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.113C>A (p.A38E) alteration is located in exon 3 (coding exon 3) of the TGFA gene. This alteration results from a C to A substitution at nucleotide position 113, causing the alanine (A) at amino acid position 38 to be replaced by a glutamic acid (E). 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