NM_001372066.1(TFAP2A):c.766C>T (p.Arg256Trp) AND Branchiooculofacial syndrome

Germline classification:: Pathogenic (3 submissions)
Last evaluated:: Sep 5, 2019
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000660305.3

Allele description [Variation Report for NM_001372066.1(TFAP2A):c.766C>T (p.Arg256Trp)]

NM_001372066.1(TFAP2A):c.766C>T (p.Arg256Trp)

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.766C>T (p.Arg256Trp)

Other names:

NM_003220.2:c.760C>T

HGVS:

NC_000006.12:g.10404512G>A
NG_016151.1:g.20053C>T
NG_075700.1:g.457G>A
NM_001032280.3:c.742C>T
NM_001042425.3:c.748C>T
NM_001372066.1:c.766C>TMANE SELECT
NP_001027451.1:p.Arg248Trp
NP_001035890.1:p.Arg250Trp
NP_001358995.1:p.Arg256Trp
NC_000006.11:g.10404745G>A
NR_145448.1:n.11G>A

Protein change:

R248W

Links:

dbSNP: rs151344528

NCBI 1000 Genomes Browser:

rs151344528

Molecular consequence:

NM_001032280.3:c.742C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001042425.3:c.748C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001372066.1:c.766C>T - missense variant - [Sequence Ontology: SO:0001583]
NR_145448.1:n.11G>A - 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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Didesmococcus koreanus mitochondrion, complete genome
gi|1982050198|gb|MW302211.1|

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000782343	Center for Human Genetics, Inc, Center for Human Genetics, Inc	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Nov 1, 2016)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001438110	Autoinflammatory diseases unit, CHU de Montpellier	no assertion criteria provided	Likely pathogenic (Jul 12, 2019)	unknown	clinical testing
SCV001572948	Genomic Medicine Lab, University of California San Francisco - CSER-P3EGS	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Sep 5, 2019)	de novo	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000782343

Center for Human Genetics, Inc, Center for Human Genetics, Inc

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Nov 1, 2016)

germline

clinical testing

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

SCV001438110

Autoinflammatory diseases unit, CHU de Montpellier

no assertion criteria provided

Likely pathogenic
(Jul 12, 2019)

unknown

clinical testing

SCV001572948

Genomic Medicine Lab, University of California San Francisco - CSER-P3EGS

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Sep 5, 2019)

de novo

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	de novo	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical 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 Center for Human Genetics, Inc, Center for Human Genetics, Inc, SCV000782343.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Autoinflammatory diseases unit, CHU de Montpellier, SCV001438110.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Genomic Medicine Lab, University of California San Francisco - CSER-P3EGS, SCV001572948.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	de novo	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 7, 2024

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