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NM_003722.5(TP63):c.688G>C (p.Val230Leu) AND not provided

Germline classification:
Uncertain significance (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001354747.2

Allele description [Variation Report for NM_003722.5(TP63):c.688G>C (p.Val230Leu)]

NM_003722.5(TP63):c.688G>C (p.Val230Leu)

Gene:
TP63:tumor protein p63 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q28
Genomic location:
Preferred name:
NM_003722.5(TP63):c.688G>C (p.Val230Leu)
HGVS:
  • NC_000003.12:g.189864340G>C
  • NG_007550.3:g.272595G>C
  • NM_001114978.2:c.688G>C
  • NM_001114979.2:c.688G>C
  • NM_001114980.2:c.406G>C
  • NM_001114981.2:c.406G>C
  • NM_001114982.2:c.406G>C
  • NM_001329144.2:c.688G>C
  • NM_001329145.2:c.406G>C
  • NM_001329146.2:c.151G>C
  • NM_001329148.2:c.688G>C
  • NM_001329149.2:c.406G>C
  • NM_001329150.2:c.151G>C
  • NM_001329964.2:c.682G>C
  • NM_003722.5:c.688G>CMANE SELECT
  • NP_001108450.1:p.Val230Leu
  • NP_001108451.1:p.Val230Leu
  • NP_001108452.1:p.Val136Leu
  • NP_001108453.1:p.Val136Leu
  • NP_001108454.1:p.Val136Leu
  • NP_001316073.1:p.Val230Leu
  • NP_001316074.1:p.Val136Leu
  • NP_001316075.1:p.Val51Leu
  • NP_001316077.1:p.Val230Leu
  • NP_001316078.1:p.Val136Leu
  • NP_001316079.1:p.Val51Leu
  • NP_001316893.1:p.Val228Leu
  • NP_003713.3:p.Val230Leu
  • LRG_428t1:c.688G>C
  • LRG_428:g.272595G>C
  • LRG_428p1:p.Val230Leu
  • NC_000003.11:g.189582129G>C
  • NC_000003.11:g.189582129G>C
  • NM_003722.4:c.688G>C
Protein change:
V136L
Links:
dbSNP: rs201466089
NCBI 1000 Genomes Browser:
rs201466089
Molecular consequence:
  • NM_001114978.2:c.688G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001114979.2:c.688G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001114980.2:c.406G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001114981.2:c.406G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001114982.2:c.406G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001329144.2:c.688G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001329145.2:c.406G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001329146.2:c.151G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001329148.2:c.688G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001329149.2:c.406G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001329150.2:c.151G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001329964.2:c.682G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003722.5:c.688G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001549437Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR)

See additional submitters

no assertion criteria provided
Uncertain significanceunknownclinical testing

Help

Summary from all submissions

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

Details of each submission

From Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR), SCV001549437.1

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

Description

The TP63 p.Val230Leu variant was not identified in the literature nor was it identified in ClinVar. The variant was identified in dbSNP (ID: rs201466089) and Cosmic. The variant was identified in control databases in 17 of 236620 chromosomes at a frequency of 0.00007185 (Genome Aggregation Database March 6, 2019, v2.1.1, non-cancer). The variant was observed in the following populations: Ashkenazi Jewish in 16 of 9564 chromosomes (freq: 0.001673) and European (non-Finnish) in 1 of 102504 chromosomes (freq: 0.00001), but was not observed in the African, Latino, East Asian, European (Finnish), Other, or South Asian populations. The p.Val230 residue is conserved in mammals and computational analyses (PolyPhen-2, SIFT, AlignGVGD, BLOSUM, MutationTaster) provide inconsistent predictions regarding the impact to the protein; this information is not very predictive of pathogenicity. The variant occurs outside of the splicing consensus sequence and in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) do not predict a difference in splicing. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of uncertain significance.

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

Last Updated: Feb 28, 2024