NM_000546.6(TP53):c.704A>G (p.Asn235Ser) AND not provided

Germline classification:: Conflicting interpretations of pathogenicity (6 submissions)
Last evaluated:: Nov 3, 2021
Review status:: criteria provided, conflicting classifications

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:: RCV000590586.28

Allele description [Variation Report for NM_000546.6(TP53):c.704A>G (p.Asn235Ser)]

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]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000149642	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely benign (Jun 12, 2020)	germline	clinical testing	Citation Link,
SCV000232075	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Uncertain significance (Aug 22, 2014)	germline	clinical testing	Citation Link,
SCV001469326	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Likely benign (Nov 27, 2019)	unknown	clinical testing	PubMed (20) [See all records that cite these PMIDs] 9285560, 17318340, 7706467, 25637381, 24728327, 28861920, 19367569, 20128691, 21343334, 26086041, 9067756, 10432928, 24549055, 30352134, 31016814, 17606709, 30262806, 21232794, 15580553, 26467025
SCV001958124	Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Likely benign	germline	clinical testing
SCV002011127	Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Nov 3, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002048467	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process 2021)	Benign (May 8, 2021)	germline	clinical testing	Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Molecular pathology in basal cell cancer with p53 as a genetic marker.

Pontén F, Berg C, Ahmadian A, Ren ZP, Nistér M, Lundeberg J, Uhlén M, Pontén J.

Oncogene. 1997 Aug 28;15(9):1059-67.

PubMed [citation]

PMID:: 9285560

Two TP53 germline mutations in a classical Li-Fraumeni syndrome family.

van Hest LP, Ruijs MW, Wagner A, van der Meer CA, Verhoef S, van't Veer LJ, Meijers-Heijboer H.

Fam Cancer. 2007;6(3):311-6. Epub 2007 Feb 23.

PubMed [citation]

PMID:: 17318340

See all PubMed Citations (21)

Details of each submission

From GeneDx, SCV000149642.10

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

Description

In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 14559903, 10362336, 26483394, 20128691, 17606709, 7706467, 21343334, 25637381, 26086041, 17318340, 19367569, 24728327, 9067756, 9285560, 10432928, 21232794, 27194209, 25980754, 28861920, 29058119, 15580553, 29979965, 30352134, 29467486, 30262806, 31016814, 30840781, 31289210, 33300245)

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

From Eurofins Ntd Llc (ga), SCV000232075.5

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

#	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		1	not provided	not provided	not provided

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV001469326.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (20)

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

From Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus, SCV001958124.1

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

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

From Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden, SCV002011127.3

#	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	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV002048467.1

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

#	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: Oct 13, 2024

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