12-2994972-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_003213.4(TEAD4):c.206C>T(p.Ser69Leu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000211 in 1,613,870 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TEAD4 | NM_003213.4 | c.206C>T | p.Ser69Leu | missense_variant | Exon 3 of 13 | ENST00000359864.8 | NP_003204.2 | |
TEAD4 | NM_201441.3 | c.206C>T | p.Ser69Leu | missense_variant | Exon 3 of 12 | NP_958849.1 | ||
TEAD4 | NM_201443.3 | c.-161-16032C>T | intron_variant | Intron 1 of 10 | NP_958851.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152162Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000439 AC: 11AN: 250674Hom.: 0 AF XY: 0.0000517 AC XY: 7AN XY: 135510
GnomAD4 exome AF: 0.0000205 AC: 30AN: 1461708Hom.: 0 Cov.: 31 AF XY: 0.0000220 AC XY: 16AN XY: 727156
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152162Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74332
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.206C>T (p.S69L) alteration is located in exon 3 (coding exon 1) of the TEAD4 gene. This alteration results from a C to T substitution at nucleotide position 206, causing the serine (S) at amino acid position 69 to be replaced by a leucine (L). 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