NM_003722.5(TP63):c.648G>C (p.Met216Ile) AND TP63-Related Spectrum Disorders

Germline classification:: Benign (1 submission)
Last evaluated:: Aug 17, 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:: RCV002124758.6

Allele description [Variation Report for NM_003722.5(TP63):c.648G>C (p.Met216Ile)]

NM_003722.5(TP63):c.648G>C (p.Met216Ile)

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.648G>C (p.Met216Ile)

HGVS:

NC_000003.12:g.189864300G>C
NG_007550.3:g.272555G>C
NM_001114978.2:c.648G>C
NM_001114979.2:c.648G>C
NM_001114980.2:c.366G>C
NM_001114981.2:c.366G>C
NM_001114982.2:c.366G>C
NM_001329144.2:c.648G>C
NM_001329145.2:c.366G>C
NM_001329146.2:c.111G>C
NM_001329148.2:c.648G>C
NM_001329149.2:c.366G>C
NM_001329150.2:c.111G>C
NM_001329964.2:c.642G>C
NM_003722.5:c.648G>CMANE SELECT
NP_001108450.1:p.Met216Ile
NP_001108451.1:p.Met216Ile
NP_001108452.1:p.Met122Ile
NP_001108453.1:p.Met122Ile
NP_001108454.1:p.Met122Ile
NP_001316073.1:p.Met216Ile
NP_001316074.1:p.Met122Ile
NP_001316075.1:p.Met37Ile
NP_001316077.1:p.Met216Ile
NP_001316078.1:p.Met122Ile
NP_001316079.1:p.Met37Ile
NP_001316893.1:p.Met214Ile
NP_003713.3:p.Met216Ile
LRG_428t1:c.648G>C
LRG_428:g.272555G>C
LRG_428p1:p.Met216Ile
NC_000003.11:g.189582089G>C

Protein change:

M122I

Links:

dbSNP: rs767553568

NCBI 1000 Genomes Browser:

rs767553568

Molecular consequence:

NM_001114978.2:c.648G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001114979.2:c.648G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001114980.2:c.366G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001114981.2:c.366G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001114982.2:c.366G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001329144.2:c.648G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001329145.2:c.366G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001329146.2:c.111G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001329148.2:c.648G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001329149.2:c.366G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001329150.2:c.111G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001329964.2:c.642G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_003722.5:c.648G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: TP63-Related Spectrum Disorders
Identifiers:: MedGen: CN239305

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002405087	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Benign (Aug 17, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002405087

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Benign
(Aug 17, 2023)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

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

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002405087.3

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

#	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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