NM_000546.6(TP53):c.867_868delinsAA (p.Arg290Ser) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 22, 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:: RCV001817739.4

Allele description [Variation Report for NM_000546.6(TP53):c.867_868delinsAA (p.Arg290Ser)]

NM_000546.6(TP53):c.867_868delinsAA (p.Arg290Ser)

Gene:

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

Variant type:

Indel

Cytogenetic location:

17p13.1

Genomic location:

Preferred name:

NM_000546.6(TP53):c.867_868delinsAA (p.Arg290Ser)

HGVS:

NC_000017.11:g.7673752_7673753delinsTT
NG_017013.2:g.18798_18799delinsAA
NM_000546.6:c.867_868delinsAAMANE SELECT
NM_001126112.3:c.867_868delinsAA
NM_001126113.3:c.867_868delinsAA
NM_001126114.3:c.867_868delinsAA
NM_001126115.2:c.471_472delinsAA
NM_001126116.2:c.471_472delinsAA
NM_001126117.2:c.471_472delinsAA
NM_001126118.2:c.750_751delinsAA
NM_001276695.3:c.750_751delinsAA
NM_001276696.3:c.750_751delinsAA
NM_001276697.3:c.390_391delinsAA
NM_001276698.3:c.390_391delinsAA
NM_001276699.3:c.390_391delinsAA
NM_001276760.3:c.750_751delinsAA
NM_001276761.3:c.750_751delinsAA
NP_000537.3:p.Arg290Ser
NP_001119584.1:p.Arg290Ser
NP_001119585.1:p.Arg290Ser
NP_001119586.1:p.Arg290Ser
NP_001119587.1:p.Arg158Ser
NP_001119588.1:p.Arg158Ser
NP_001119589.1:p.Arg158Ser
NP_001119590.1:p.Arg251Ser
NP_001263624.1:p.Arg251Ser
NP_001263625.1:p.Arg251Ser
NP_001263626.1:p.Arg131Ser
NP_001263627.1:p.Arg131Ser
NP_001263628.1:p.Arg131Ser
NP_001263689.1:p.Arg251Ser
NP_001263690.1:p.Arg251Ser
LRG_321t1:c.867_868delinsAA
LRG_321:g.18798_18799delinsAA
NC_000017.10:g.7577070_7577071delinsTT
NM_000546.5:c.867_868delinsAA

Protein change:

R131S

Links:

dbSNP: rs2151014889

NCBI 1000 Genomes Browser:

rs2151014889

Molecular consequence:

NM_000546.6:c.867_868delinsAA - missense variant - [Sequence Ontology: SO:0001583]
NM_001126112.3:c.867_868delinsAA - missense variant - [Sequence Ontology: SO:0001583]
NM_001126113.3:c.867_868delinsAA - missense variant - [Sequence Ontology: SO:0001583]
NM_001126114.3:c.867_868delinsAA - missense variant - [Sequence Ontology: SO:0001583]
NM_001126115.2:c.471_472delinsAA - missense variant - [Sequence Ontology: SO:0001583]
NM_001126116.2:c.471_472delinsAA - missense variant - [Sequence Ontology: SO:0001583]
NM_001126117.2:c.471_472delinsAA - missense variant - [Sequence Ontology: SO:0001583]
NM_001126118.2:c.750_751delinsAA - missense variant - [Sequence Ontology: SO:0001583]
NM_001276695.3:c.750_751delinsAA - missense variant - [Sequence Ontology: SO:0001583]
NM_001276696.3:c.750_751delinsAA - missense variant - [Sequence Ontology: SO:0001583]
NM_001276697.3:c.390_391delinsAA - missense variant - [Sequence Ontology: SO:0001583]
NM_001276698.3:c.390_391delinsAA - missense variant - [Sequence Ontology: SO:0001583]
NM_001276699.3:c.390_391delinsAA - missense variant - [Sequence Ontology: SO:0001583]
NM_001276760.3:c.750_751delinsAA - missense variant - [Sequence Ontology: SO:0001583]
NM_001276761.3:c.750_751delinsAA - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002069092	Genetic Services Laboratory, University of Chicago	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jan 22, 2018)	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

SCV002069092

Genetic Services Laboratory, University of Chicago

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jan 22, 2018)

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	no	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Genetic Services Laboratory, University of Chicago, SCV002069092.1

#	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	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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