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NM_001372066.1(TFAP2A):c.925G>A (p.Val309Met) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 10, 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:
RCV003175534.2

Allele description [Variation Report for NM_001372066.1(TFAP2A):c.925G>A (p.Val309Met)]

NM_001372066.1(TFAP2A):c.925G>A (p.Val309Met)

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.925G>A (p.Val309Met)
Other names:
NM_003220.2:c.919G>A
HGVS:
  • NC_000006.12:g.10400554C>T
  • NG_016151.1:g.24011G>A
  • NM_001032280.3:c.901G>A
  • NM_001042425.3:c.907G>A
  • NM_001372066.1:c.925G>AMANE SELECT
  • NP_001027451.1:p.Val301Met
  • NP_001035890.1:p.Val303Met
  • NP_001358995.1:p.Val309Met
  • NC_000006.11:g.10400787C>T
Protein change:
V301M
Molecular consequence:
  • NM_001032280.3:c.901G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042425.3:c.907G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001372066.1:c.925G>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV003876942Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jan 10, 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, SCV003876942.2

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

Description

The c.919G>A (p.V307M) alteration is located in exon 6 (coding exon 6) of the TFAP2A gene. This alteration results from a G to A substitution at nucleotide position 919, causing the valine (V) at amino acid position 307 to be replaced by a methionine (M). 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: Nov 10, 2024