NM_000546.6(TP53):c.638G>A (p.Arg213Gln) AND Squamous cell carcinoma of the skin

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: May 31, 2016
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:: RCV000420459.4

Allele description [Variation Report for NM_000546.6(TP53):c.638G>A (p.Arg213Gln)]

NM_000546.6(TP53):c.638G>A (p.Arg213Gln)

Gene:

TP53:tumor protein p53 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.1

Genomic location:

Preferred name:

NM_000546.6(TP53):c.638G>A (p.Arg213Gln)

HGVS:

NC_000017.11:g.7674893C>T
NG_017013.2:g.17658G>A
NM_000546.6:c.638G>AMANE SELECT
NM_001126112.3:c.638G>A
NM_001126113.3:c.638G>A
NM_001126114.3:c.638G>A
NM_001126115.2:c.242G>A
NM_001126116.2:c.242G>A
NM_001126117.2:c.242G>A
NM_001126118.2:c.521G>A
NM_001276695.3:c.521G>A
NM_001276696.3:c.521G>A
NM_001276697.3:c.161G>A
NM_001276698.3:c.161G>A
NM_001276699.3:c.161G>A
NM_001276760.3:c.521G>A
NM_001276761.3:c.521G>A
NP_000537.3:p.Arg213Gln
NP_000537.3:p.Arg213Gln
NP_001119584.1:p.Arg213Gln
NP_001119585.1:p.Arg213Gln
NP_001119586.1:p.Arg213Gln
NP_001119587.1:p.Arg81Gln
NP_001119588.1:p.Arg81Gln
NP_001119589.1:p.Arg81Gln
NP_001119590.1:p.Arg174Gln
NP_001263624.1:p.Arg174Gln
NP_001263625.1:p.Arg174Gln
NP_001263626.1:p.Arg54Gln
NP_001263627.1:p.Arg54Gln
NP_001263628.1:p.Arg54Gln
NP_001263689.1:p.Arg174Gln
NP_001263690.1:p.Arg174Gln
LRG_321t1:c.638G>A
LRG_321:g.17658G>A
LRG_321p1:p.Arg213Gln
NC_000017.10:g.7578211C>T
NM_000546.4:c.638G>A
NM_000546.5:c.638G>A
P04637:p.Arg213Gln
p.R213Q

Protein change:

R174Q

Links:

UniProtKB: P04637#VAR_005955; dbSNP: rs587778720

NCBI 1000 Genomes Browser:

rs587778720

Molecular consequence:

NM_000546.6:c.638G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001126112.3:c.638G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001126113.3:c.638G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001126114.3:c.638G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001126115.2:c.242G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001126116.2:c.242G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001126117.2:c.242G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001126118.2:c.521G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001276695.3:c.521G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001276696.3:c.521G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001276697.3:c.161G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001276698.3:c.161G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001276699.3:c.161G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001276760.3:c.521G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001276761.3:c.521G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Squamous cell carcinoma of the skin
Identifiers:: MONDO: MONDO:0002529; MedGen: C0553723; Human Phenotype Ontology: HP:0006739

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1460043[uid] (1)
Taxonomy
Lumbrinerides cf. laubieri NHM 020 voucher NHMUK ANEA 2022.804 large subunit rib...
Lumbrinerides cf. laubieri NHM 020 voucher NHMUK ANEA 2022.804 large subunit ribosomal RNA gene, partial sequence; mitochondrial
gi|2496059848|gb|OQ865042.1|

Nucleotide
Braxilia parvifolia AND 1[s_discriminator] (0)
dbGaP
dermis hylobia (5833)
ClinVar
XYLB[gene] (53)
ClinVar

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000509213	Database of Curated Mutations (DoCM)	no assertion criteria provided	Likely pathogenic (May 31, 2016)	somatic	literature only	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000509213

Database of Curated Mutations (DoCM)

no assertion criteria provided

Likely pathogenic
(May 31, 2016)

somatic

literature only

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

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	somatic	yes	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

Chang MT, Asthana S, Gao SP, Lee BH, Chapman JS, Kandoth C, Gao J, Socci ND, Solit DB, Olshen AB, Schultz N, Taylor BS.

Nat Biotechnol. 2016 Feb;34(2):155-63. doi: 10.1038/nbt.3391. Epub 2015 Nov 30.

PubMed [citation]

PMID:: 26619011
PMCID:: PMC4744099

Details of each submission

From Database of Curated Mutations (DoCM), SCV000509213.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	somatic	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 20, 2024

ClinVar

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