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NM_001372066.1(TFAP2A):c.586C>T (p.Pro196Ser) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 12, 2022
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:
RCV002683223.2

Allele description [Variation Report for NM_001372066.1(TFAP2A):c.586C>T (p.Pro196Ser)]

NM_001372066.1(TFAP2A):c.586C>T (p.Pro196Ser)

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.586C>T (p.Pro196Ser)
Other names:
NM_003220.2:c.580C>T
HGVS:
  • NC_000006.12:g.10404692G>A
  • NG_016151.1:g.19873C>T
  • NM_001032280.3:c.562C>T
  • NM_001042425.3:c.568C>T
  • NM_001372066.1:c.586C>TMANE SELECT
  • NP_001027451.1:p.Pro188Ser
  • NP_001035890.1:p.Pro190Ser
  • NP_001358995.1:p.Pro196Ser
  • NC_000006.11:g.10404925G>A
  • NR_145448.1:n.191G>A
Protein change:
P188S
Molecular consequence:
  • NM_001032280.3:c.562C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042425.3:c.568C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001372066.1:c.586C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_145448.1:n.191G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003551432Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jul 12, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003551432.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.580C>T (p.P194S) alteration is located in exon 4 (coding exon 4) of the TFAP2A gene. This alteration results from a C to T substitution at nucleotide position 580, causing the proline (P) at amino acid position 194 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: May 1, 2024