rs1554111751
Variant summary
Our verdict is Pathogenic. Variant got 14 ACMG points: 14P and 0B. PM2PP3_StrongPP5_Very_Strong
The NM_001372066.1(TFAP2A):c.703G>A(p.Glu235Lys) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Likely pathogenic (★★).
Frequency
Consequence
NM_001372066.1 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Pathogenic. Variant got 14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TFAP2A | NM_001372066.1 | c.703G>A | p.Glu235Lys | missense_variant | Exon 4 of 7 | ENST00000379613.10 | NP_001358995.1 | |
TFAP2A | NM_001042425.3 | c.685G>A | p.Glu229Lys | missense_variant | Exon 4 of 7 | NP_001035890.1 | ||
TFAP2A | NM_001032280.3 | c.679G>A | p.Glu227Lys | missense_variant | Exon 4 of 7 | NP_001027451.1 | ||
TFAP2A-AS2 | NR_145448.1 | n.74C>T | non_coding_transcript_exon_variant | Exon 1 of 1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TFAP2A | ENST00000379613.10 | c.703G>A | p.Glu235Lys | missense_variant | Exon 4 of 7 | 1 | NM_001372066.1 | ENSP00000368933.5 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
Branchiooculofacial syndrome Pathogenic:1
- -
not provided Pathogenic:1
Observed in multiple individuals from a single family with clinical features of TFAP2A-related branchiooculofacial syndrome (Titheradge et al., 2015); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Also known as c.703G >A (p.Glu235Lys); This variant is associated with the following publications: (PMID: 25325185) -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at