12-3020705-G-A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_003213.4(TEAD4):c.655G>A(p.Val219Met) variant causes a missense change. The variant allele was found at a frequency of 0.000277 in 1,609,258 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_003213.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TEAD4 | NM_003213.4 | c.655G>A | p.Val219Met | missense_variant | Exon 9 of 13 | ENST00000359864.8 | NP_003204.2 | |
TEAD4 | NM_201441.3 | c.526G>A | p.Val176Met | missense_variant | Exon 8 of 12 | NP_958849.1 | ||
TEAD4 | NM_201443.3 | c.268G>A | p.Val90Met | missense_variant | Exon 7 of 11 | NP_958851.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000250 AC: 38AN: 152152Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000278 AC: 68AN: 244754Hom.: 0 AF XY: 0.000332 AC XY: 44AN XY: 132448
GnomAD4 exome AF: 0.000280 AC: 408AN: 1456988Hom.: 0 Cov.: 31 AF XY: 0.000282 AC XY: 204AN XY: 724492
GnomAD4 genome AF: 0.000250 AC: 38AN: 152270Hom.: 0 Cov.: 32 AF XY: 0.000282 AC XY: 21AN XY: 74450
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.655G>A (p.V219M) alteration is located in exon 9 (coding exon 7) of the TEAD4 gene. This alteration results from a G to A substitution at nucleotide position 655, causing the valine (V) at amino acid position 219 to be replaced by a methionine (M). 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