NM_000546.6(TP53):c.641A>T (p.His214Leu) AND Papillary renal cell carcinoma type 1

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:: RCV000444957.2

Allele description [Variation Report for NM_000546.6(TP53):c.641A>T (p.His214Leu)]

NM_000546.6(TP53):c.641A>T (p.His214Leu)

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.641A>T (p.His214Leu)

HGVS:

NC_000017.11:g.7674890T>A
NG_017013.2:g.17661A>T
NM_000546.6:c.641A>TMANE SELECT
NM_001126112.3:c.641A>T
NM_001126113.3:c.641A>T
NM_001126114.3:c.641A>T
NM_001126115.2:c.245A>T
NM_001126116.2:c.245A>T
NM_001126117.2:c.245A>T
NM_001126118.2:c.524A>T
NM_001276695.3:c.524A>T
NM_001276696.3:c.524A>T
NM_001276697.3:c.164A>T
NM_001276698.3:c.164A>T
NM_001276699.3:c.164A>T
NM_001276760.3:c.524A>T
NM_001276761.3:c.524A>T
NP_000537.3:p.His214Leu
NP_001119584.1:p.His214Leu
NP_001119585.1:p.His214Leu
NP_001119586.1:p.His214Leu
NP_001119587.1:p.His82Leu
NP_001119588.1:p.His82Leu
NP_001119589.1:p.His82Leu
NP_001119590.1:p.His175Leu
NP_001263624.1:p.His175Leu
NP_001263625.1:p.His175Leu
NP_001263626.1:p.His55Leu
NP_001263627.1:p.His55Leu
NP_001263628.1:p.His55Leu
NP_001263689.1:p.His175Leu
NP_001263690.1:p.His175Leu
LRG_321:g.17661A>T
NC_000017.10:g.7578208T>A

Protein change:

H175L

Links:

dbSNP: rs1057519992

NCBI 1000 Genomes Browser:

rs1057519992

Molecular consequence:

NM_000546.6:c.641A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001126112.3:c.641A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001126113.3:c.641A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001126114.3:c.641A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001126115.2:c.245A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001126116.2:c.245A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001126117.2:c.245A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001126118.2:c.524A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001276695.3:c.524A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001276696.3:c.524A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001276697.3:c.164A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001276698.3:c.164A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001276699.3:c.164A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001276760.3:c.524A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001276761.3:c.524A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Papillary renal cell carcinoma type 1 (RCCP1)
Synonyms:: RENAL CELL CARCINOMA, PAPILLARY, 1, SOMATIC; Renal adenocarcinoma; Renal cell carcinoma 1; See all synonyms [MedGen]
Identifiers:: MedGen: C1336839; Orphanet: 47044; OMIM: 605074; Human Phenotype Ontology: HP:0011797

Recent activity

Clear Turn Off Turn On

Homo sapiens DNA damage regulated autophagy modulator 2 (DRAM2), transcript vari...
Homo sapiens DNA damage regulated autophagy modulator 2 (DRAM2), transcript variant 16, non-coding RNA
gi|1890387109|ref|NR_146303.2|

Nucleotide
Homo sapiens DNA damage regulated autophagy modulator 2 (DRAM2), transcript vari...
Homo sapiens DNA damage regulated autophagy modulator 2 (DRAM2), transcript variant 15, non-coding RNA
gi|1890350594|ref|NR_146302.2|

Nucleotide

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000508606	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

SCV000508606

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), SCV000508606.1

#	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: Sep 29, 2024

ClinVar

Relating variation to medicine