U.S. flag

An official website of the United States government

NM_000546.6(TP53):c.646G>A (p.Val216Met) AND Li-Fraumeni syndrome 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 25, 2018
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:
RCV000663213.1

Allele description

NM_000546.6(TP53):c.646G>A (p.Val216Met)

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.646G>A (p.Val216Met)
Other names:
p.V216M:GTG>ATG
HGVS:
  • NC_000017.11:g.7674885C>T
  • NG_017013.2:g.17666G>A
  • NM_000546.6:c.646G>AMANE SELECT
  • NM_001126112.3:c.646G>A
  • NM_001126113.3:c.646G>A
  • NM_001126114.3:c.646G>A
  • NM_001126115.2:c.250G>A
  • NM_001126116.2:c.250G>A
  • NM_001126117.2:c.250G>A
  • NM_001126118.2:c.529G>A
  • NM_001276695.3:c.529G>A
  • NM_001276696.3:c.529G>A
  • NM_001276697.3:c.169G>A
  • NM_001276698.3:c.169G>A
  • NM_001276699.3:c.169G>A
  • NM_001276760.3:c.529G>A
  • NM_001276761.3:c.529G>A
  • NP_000537.3:p.Val216Met
  • NP_000537.3:p.Val216Met
  • NP_001119584.1:p.Val216Met
  • NP_001119585.1:p.Val216Met
  • NP_001119586.1:p.Val216Met
  • NP_001119587.1:p.Val84Met
  • NP_001119588.1:p.Val84Met
  • NP_001119589.1:p.Val84Met
  • NP_001119590.1:p.Val177Met
  • NP_001263624.1:p.Val177Met
  • NP_001263625.1:p.Val177Met
  • NP_001263626.1:p.Val57Met
  • NP_001263627.1:p.Val57Met
  • NP_001263628.1:p.Val57Met
  • NP_001263689.1:p.Val177Met
  • NP_001263690.1:p.Val177Met
  • LRG_321t1:c.646G>A
  • LRG_321:g.17666G>A
  • LRG_321p1:p.Val216Met
  • NC_000017.10:g.7578203C>T
  • NM_000546.4:c.646G>A
  • NM_000546.5:c.646G>A
  • P04637:p.Val216Met
Protein change:
V177M
Links:
UniProtKB: P04637#VAR_005956; dbSNP: rs730882025
NCBI 1000 Genomes Browser:
rs730882025
Molecular consequence:
  • NM_000546.6:c.646G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126112.3:c.646G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126113.3:c.646G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126114.3:c.646G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126115.2:c.250G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126116.2:c.250G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126117.2:c.250G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126118.2:c.529G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276695.3:c.529G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276696.3:c.529G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276697.3:c.169G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276698.3:c.169G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276699.3:c.169G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276760.3:c.529G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276761.3:c.529G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Li-Fraumeni syndrome 1 (LFS)
Identifiers:
Gene: 553989; MONDO: MONDO:0007903; MedGen: C1835398; Orphanet: 524; OMIM: 151623

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000786399Counsyl
criteria provided, single submitter

(Counsyl Autosomal Dominant Disease Classification criteria (2015))		Uncertain significance
(Apr 25, 2018) 		unknownclinical testing

PubMed (7)
[See all records that cite these PMIDs]

Counsyl_Autosomal_Dominant_Disease_Classification_criteria_(2015)_v1.pdf

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Analysis of transactivation capability and conformation of p53 temperature-dependent mutants and their reactivation by amifostine in yeast.

Grochova D, Vankova J, Damborsky J, Ravcukova B, Smarda J, Vojtesek B, Smardova J.

Oncogene. 2008 Feb 21;27(9):1243-52. Epub 2007 Sep 3.

PubMed [citation]
PMID:
17724467

A comprehensive study of TP53 mutations in chronic lymphocytic leukemia: Analysis of 1287 diagnostic and 1148 follow-up CLL samples.

Pekova S, Mazal O, Cmejla R, Hardekopf DW, Plachy R, Zejskova L, Haugvicova R, Jancuskova T, Karas M, Koza V, Smolej L, Bezdickova L, Kozak T.

Leuk Res. 2011 Jul;35(7):889-98. doi: 10.1016/j.leukres.2010.12.016. Epub 2011 Jan 13.

PubMed [citation]
PMID:
21232794
See all PubMed Citations (7)

Details of each submission

From Counsyl, SCV000786399.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (7)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 18, 2022