6-10404524-C-A
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM2PP3_Strong
The NM_001372066.1(TFAP2A):c.754G>T(p.Gly252Cys) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000000686 in 1,457,372 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001372066.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TFAP2A | NM_001372066.1 | c.754G>T | p.Gly252Cys | missense_variant | Exon 4 of 7 | ENST00000379613.10 | NP_001358995.1 | |
TFAP2A | NM_001042425.3 | c.736G>T | p.Gly246Cys | missense_variant | Exon 4 of 7 | NP_001035890.1 | ||
TFAP2A | NM_001032280.3 | c.730G>T | p.Gly244Cys | missense_variant | Exon 4 of 7 | NP_001027451.1 | ||
TFAP2A-AS2 | NR_145448.1 | n.23C>A | 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.754G>T | p.Gly252Cys | missense_variant | Exon 4 of 7 | 1 | NM_001372066.1 | ENSP00000368933.5 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 6.86e-7 AC: 1AN: 1457372Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 724698
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
Branchiooculofacial syndrome Uncertain:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.