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NM_001372066.1(TFAP2A):c.889+73T>C AND Branchiooculofacial syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 1, 2009
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001713137.1

Allele description [Variation Report for NM_001372066.1(TFAP2A):c.889+73T>C]

NM_001372066.1(TFAP2A):c.889+73T>C

Gene:
TFAP2A:transcription factor AP-2 alpha [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p24.3
Genomic location:
Preferred name:
NM_001372066.1(TFAP2A):c.889+73T>C
Other names:
F319S
HGVS:
  • NC_000006.12:g.10402419A>G
  • NG_016151.1:g.22146T>C
  • NM_001032280.3:c.865+73T>C
  • NM_001042425.3:c.871+73T>C
  • NM_001372066.1:c.889+73T>CMANE SELECT
  • NC_000006.11:g.10402652A>G
Note:
NCBI staff provided an HGVS expression for allelic variant 107580.0004 based on the trace in Figure 1 of the paper by Gestri et al., 2009, (PubMed 19685247).
Protein change:
PHE319SER
Links:
OMIM: 107580.0004; dbSNP: rs113027487
NCBI 1000 Genomes Browser:
rs113027487
Molecular consequence:
  • NM_001032280.3:c.865+73T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001042425.3:c.871+73T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001372066.1:c.889+73T>C - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Branchiooculofacial syndrome (BOFS)
Synonyms:
BOF SYNDROME; BOFS syndrome; Branchial clefts with characteristic facies growth retardation imperforate nasolacrimal duct and premature aging; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007235; MeSH: D019280; MedGen: C0376524; Orphanet: 1297; OMIM: 113620

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000039830OMIM
no assertion criteria provided
Pathogenic
(Dec 1, 2009) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators.

Gestri G, Osborne RJ, Wyatt AW, Gerrelli D, Gribble S, Stewart H, Fryer A, Bunyan DJ, Prescott K, Collin JR, Fitzgerald T, Robinson D, Carter NP, Wilson SW, Ragge NK.

Hum Genet. 2009 Dec;126(6):791-803. doi: 10.1007/s00439-009-0730-x.

PubMed [citation]
PMID:
19685247
PMCID:
PMC3083835

Details of each submission

From OMIM, SCV000039830.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a 10-month-old female infant with severe eye defects but a nonclassic branchiooculofacial syndrome phenotype (BOFS; 113620), Gestri et al. (2009) identified a heterozygous 956T-C transition in exon 5a the TFAP2A gene, resulting in a phe319-to-ser (F319S) substitution at a conserved residue in the alternatively spliced isoform of TFAP2A. The mutation, which was not found in 189 control samples, was inherited from her apparently unaffected father and segregated with polydactyly on the paternal side. The patient had right microphthalmia with sclerocornea, primary aphakia, and localized tractional retinal detachment, and an extremely microphthalmic left eye with sclerocornea. Her systemic features, which were not classic for BOFS, included atrial septal defect with an enlarged anomalous blood vessel draining into the right atrium, and facial capillary hemangioma.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 24, 2023