NM_001372066.1(TFAP2A):c.973C>T (p.Arg325Ter) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 23, 2023
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:: RCV003716657.2

Allele description [Variation Report for NM_001372066.1(TFAP2A):c.973C>T (p.Arg325Ter)]

NM_001372066.1(TFAP2A):c.973C>T (p.Arg325Ter)

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.973C>T (p.Arg325Ter)

HGVS:

NC_000006.12:g.10400506G>A
NG_016151.1:g.24059C>T
NM_001032280.3:c.949C>T
NM_001042425.3:c.955C>T
NM_001372066.1:c.973C>TMANE SELECT
NP_001027451.1:p.Arg317Ter
NP_001035890.1:p.Arg319Ter
NP_001358995.1:p.Arg325Ter
NC_000006.11:g.10400739G>A

Protein change:

R317*

Molecular consequence:

NM_001032280.3:c.949C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001042425.3:c.955C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001372066.1:c.973C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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cytochrome oxidase subunit 1, partial (mitochondrion) [Emberiza buchanani]
cytochrome oxidase subunit 1, partial (mitochondrion) [Emberiza buchanani]
gi|359281792|gb|AEV13124.1|

Protein
Uncultured bacterium clone HEF1423 16S ribosomal RNA gene, partial sequence; mit...
Uncultured bacterium clone HEF1423 16S ribosomal RNA gene, partial sequence; mitochondrial
gi|1343103543|gb|MF148209.1|

Nucleotide
Uncultured bacterium clone HEF823 16S ribosomal RNA gene, partial sequence; mito...
Uncultured bacterium clone HEF823 16S ribosomal RNA gene, partial sequence; mitochondrial
gi|1343103551|gb|MF148217.1|

Nucleotide
cytochrome oxidase subunit 1, partial (mitochondrion) [Amblycercus holosericeus]
cytochrome oxidase subunit 1, partial (mitochondrion) [Amblycercus holosericeus]
gi|359280286|gb|AEV12371.1|

Protein
Eurotiales calmodulin (cmdA) gene, partial cds.
Eurotiales calmodulin (cmdA) gene, partial cds.
PopSet: 1861683665

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004502631	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Aug 23, 2023)	germline	clinical testing	PubMed (6) [See all records that cite these PMIDs] 8622766, 20150232, 21204207, 21539471, 21728810, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004502631

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Aug 23, 2023)

germline

clinical testing

PubMed (6)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Neural tube, skeletal and body wall defects in mice lacking transcription factor AP-2.

Zhang J, Hagopian-Donaldson S, Serbedzija G, Elsemore J, Plehn-Dujowich D, McMahon AP, Flavell RA, Williams T.

Nature. 1996 May 16;381(6579):238-41.

PubMed [citation]

PMID:: 8622766

AP-2alpha knockout mice exhibit optic cup patterning defects and failure of optic stalk morphogenesis.

Bassett EA, Williams T, Zacharias AL, Gage PJ, Fuhrmann S, West-Mays JA.

Hum Mol Genet. 2010 May 1;19(9):1791-804. doi: 10.1093/hmg/ddq060. Epub 2010 Feb 11.

PubMed [citation]

PMID:: 20150232
PMCID:: PMC2850623

See all PubMed Citations (6)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004502631.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (6)

Description

For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with TFAP2A-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg323*) in the TFAP2A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TFAP2A are known to be pathogenic (PMID: 8622766, 20150232, 21204207, 21539471, 21728810).

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

Last Updated: Sep 29, 2024

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