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NM_001372066.1(TFAP2A):c.594C>A (p.Asn198Lys) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 20, 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:
RCV002848641.2

Allele description [Variation Report for NM_001372066.1(TFAP2A):c.594C>A (p.Asn198Lys)]

NM_001372066.1(TFAP2A):c.594C>A (p.Asn198Lys)

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.594C>A (p.Asn198Lys)
Other names:
NM_003220.2:c.588C>A
HGVS:
  • NC_000006.12:g.10404684G>T
  • NG_016151.1:g.19881C>A
  • NM_001032280.3:c.570C>A
  • NM_001042425.3:c.576C>A
  • NM_001372066.1:c.594C>AMANE SELECT
  • NP_001027451.1:p.Asn190Lys
  • NP_001035890.1:p.Asn192Lys
  • NP_001358995.1:p.Asn198Lys
  • NC_000006.11:g.10404917G>T
  • NR_145448.1:n.183G>T
Protein change:
N190K
Molecular consequence:
  • NM_001032280.3:c.570C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042425.3:c.576C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001372066.1:c.594C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_145448.1:n.183G>T - 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
SCV003608568Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 20, 2023) 		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, SCV003608568.2

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

Description

The c.588C>A (p.N196K) alteration is located in exon 4 (coding exon 4) of the TFAP2A gene. This alteration results from a C to A substitution at nucleotide position 588, causing the asparagine (N) at amino acid position 196 to be replaced by a lysine (K). This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This amino acid position is highly conserved in available vertebrate species. The in silico prediction for this alteration is inconclusive. 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 7, 2024