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NM_001372066.1(TFAP2A):c.742G>A (p.Ala248Thr) AND Branchiooculofacial syndrome

Germline classification:
Uncertain significance (1 submission)
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV003388730.2

Allele description [Variation Report for NM_001372066.1(TFAP2A):c.742G>A (p.Ala248Thr)]

NM_001372066.1(TFAP2A):c.742G>A (p.Ala248Thr)

Genes:
LOC121740638:BRD4-independent group 4 enhancer GRCh37_chr6:10403277-10404476 [Gene]
TFAP2A-AS2:TFAP2A antisense RNA 2 [Gene - OMIM - HGNC]
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.742G>A (p.Ala248Thr)
Other names:
NM_003220.2:c.736G>A
HGVS:
  • NC_000006.12:g.10404536C>T
  • NG_016151.1:g.20029G>A
  • NG_075700.1:g.481C>T
  • NG_075700.3:g.1593C>T
  • NM_001032280.3:c.718G>A
  • NM_001042425.3:c.724G>A
  • NM_001372066.1:c.742G>AMANE SELECT
  • NP_001027451.1:p.Ala240Thr
  • NP_001035890.1:p.Ala242Thr
  • NP_001358995.1:p.Ala248Thr
  • NC_000006.11:g.10404769C>T
  • NR_145448.1:n.35C>T
Protein change:
A240T
Molecular consequence:
  • NM_001032280.3:c.718G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042425.3:c.724G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001372066.1:c.742G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_145448.1:n.35C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV004100477Neuberg Centre For Genomic Medicine, NCGM
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significancegermlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Neuberg Centre For Genomic Medicine, NCGM, SCV004100477.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The missense variant p.A248T in TFAP2A (NM_001372066.1) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.A248T variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. The p.A248T missense variant is predicted to be damaging by both SIFT and PolyPhen2. The alanine residue at codon 248 of TFAP2A is conserved in all mammalian species. The nucleotide c.742 in TFAP2A is predicted conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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

Last Updated: Apr 6, 2024