NM_000546.6(TP53):c.704A>G (p.Asn235Ser) AND TP53-related disorder

This record was updated by the submitter. Please see the current version.

Germline classification:: Likely benign (1 submission)
Last evaluated:: Feb 17, 2021
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:: RCV003952552.1

Allele description

NM_000546.6(TP53):c.704A>G (p.Asn235Ser)

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.704A>G (p.Asn235Ser)

Other names:

p.N235S:AAC>AGC

HGVS:

NC_000017.11:g.7674259T>C
NG_017013.2:g.18292A>G
NM_000546.6:c.704A>GMANE SELECT
NM_001126112.3:c.704A>G
NM_001126113.3:c.704A>G
NM_001126114.3:c.704A>G
NM_001126115.2:c.308A>G
NM_001126116.2:c.308A>G
NM_001126117.2:c.308A>G
NM_001126118.2:c.587A>G
NM_001276695.3:c.587A>G
NM_001276696.3:c.587A>G
NM_001276697.3:c.227A>G
NM_001276698.3:c.227A>G
NM_001276699.3:c.227A>G
NM_001276760.3:c.587A>G
NM_001276761.3:c.587A>G
NP_000537.3:p.Asn235Ser
NP_000537.3:p.Asn235Ser
NP_001119584.1:p.Asn235Ser
NP_001119585.1:p.Asn235Ser
NP_001119586.1:p.Asn235Ser
NP_001119587.1:p.Asn103Ser
NP_001119588.1:p.Asn103Ser
NP_001119589.1:p.Asn103Ser
NP_001119590.1:p.Asn196Ser
NP_001263624.1:p.Asn196Ser
NP_001263625.1:p.Asn196Ser
NP_001263626.1:p.Asn76Ser
NP_001263627.1:p.Asn76Ser
NP_001263628.1:p.Asn76Ser
NP_001263689.1:p.Asn196Ser
NP_001263690.1:p.Asn196Ser
LRG_321t1:c.704A>G
LRG_321:g.18292A>G
LRG_321p1:p.Asn235Ser
NC_000017.10:g.7577577T>C
NM_000546.4:c.704A>G
NM_000546.5(TP53):c.704A>G
NM_000546.5:c.704A>G
P04637:p.Asn235Ser
p.N235S

Protein change:

N103S

Links:

UniProtKB: P04637#VAR_045186; dbSNP: rs144340710

NCBI 1000 Genomes Browser:

rs144340710

Molecular consequence:

NM_000546.6:c.704A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001126112.3:c.704A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001126113.3:c.704A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001126114.3:c.704A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001126115.2:c.308A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001126116.2:c.308A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001126117.2:c.308A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001126118.2:c.587A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001276695.3:c.587A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001276696.3:c.587A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001276697.3:c.227A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001276698.3:c.227A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001276699.3:c.227A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001276760.3:c.587A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001276761.3:c.587A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: TP53-related disorder
Synonyms:: TP53-related condition
Identifiers:

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tight junction protein ZO-2 isoform 1 [Homo sapiens]
tight junction protein ZO-2 isoform 1 [Homo sapiens]
gi|42518070|ref|NP_004808.2|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004775259	PreventionGenetics, part of Exact Sciences	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Feb 17, 2021)	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

SCV004775259

PreventionGenetics, part of Exact Sciences

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign
(Feb 17, 2021)

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

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 PreventionGenetics, part of Exact Sciences, SCV004775259.1

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

Description

This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

#	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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