U.S. flag

An official website of the United States government

NM_001372066.1(TFAP2A):c.1043_1044del (p.Lys348fs) AND Branchiooculofacial syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 15, 2020
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:
RCV001270676.2

Allele description [Variation Report for NM_001372066.1(TFAP2A):c.1043_1044del (p.Lys348fs)]

NM_001372066.1(TFAP2A):c.1043_1044del (p.Lys348fs)

Gene:
TFAP2A:transcription factor AP-2 alpha [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
6p24.3
Genomic location:
Preferred name:
NM_001372066.1(TFAP2A):c.1043_1044del (p.Lys348fs)
HGVS:
  • NC_000006.12:g.10398694_10398695del
  • NG_016151.1:g.25871_25872del
  • NM_001032280.3:c.1019_1020del
  • NM_001042425.3:c.1025_1026del
  • NM_001372066.1:c.1043_1044delMANE SELECT
  • NP_001027451.1:p.Lys340fs
  • NP_001035890.1:p.Lys342fs
  • NP_001358995.1:p.Lys348fs
  • NC_000006.11:g.10398927_10398928del
Protein change:
K340fs
Links:
dbSNP: rs1554110735
NCBI 1000 Genomes Browser:
rs1554110735
Molecular consequence:
  • NM_001032280.3:c.1019_1020del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001042425.3:c.1025_1026del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001372066.1:c.1043_1044del - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001364583Genetics Department, University Hospital of Toulouse
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(May 15, 2020) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not 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 Genetics Department, University Hospital of Toulouse, SCV001364583.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

This null variant affecting TFAP2A gene c.1037_1038del, p.(Lys346fs*84) is absent from GnomAD and was once reported in the Clinvar database as pathogenic (SCV000747548.1)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jan 26, 2024