NM_001372066.1(TFAP2A):c.758G>A (p.Gly253Glu) AND Branchiooculofacial syndrome

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Oct 23, 2019
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:: RCV001029733.1

Allele description [Variation Report for NM_001372066.1(TFAP2A):c.758G>A (p.Gly253Glu)]

NM_001372066.1(TFAP2A):c.758G>A (p.Gly253Glu)

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.758G>A (p.Gly253Glu)

Other names:

NM_003220.2:c.752G>A

HGVS:

NC_000006.12:g.10404520C>T
NG_016151.1:g.20045G>A
NG_075700.1:g.465C>T
NM_001032280.3:c.734G>A
NM_001042425.3:c.740G>A
NM_001372066.1:c.758G>AMANE SELECT
NP_001027451.1:p.Gly245Glu
NP_001035890.1:p.Gly247Glu
NP_001358995.1:p.Gly253Glu
NC_000006.11:g.10404753C>T
NR_145448.1:n.19C>T

Protein change:

G245E

Links:

dbSNP: rs151344527

NCBI 1000 Genomes Browser:

rs151344527

Molecular consequence:

NM_001032280.3:c.734G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001042425.3:c.740G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001372066.1:c.758G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_145448.1:n.19C>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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001192519	HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - CSER-SouthSeq	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Oct 23, 2019)	de novo	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001192519

HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - CSER-SouthSeq

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Oct 23, 2019)

de novo

research

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	de novo	yes	1	not provided	not provided	1	not provided	research

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 HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - CSER-SouthSeq, SCV001192519.1

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

Description

ACMG codes: PS2, PS4M, PM2, PP3

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

Last Updated: Mar 26, 2023

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