NM_000546.6(TP53):c.23C>G (p.Pro8Arg) AND Hereditary cancer-predisposing syndrome

Germline classification:: Likely benign (1 submission)
Last evaluated:: Feb 28, 2022
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:: RCV002459647.2

Allele description [Variation Report for NM_000546.6(TP53):c.23C>G (p.Pro8Arg)]

NM_000546.6(TP53):c.23C>G (p.Pro8Arg)

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.23C>G (p.Pro8Arg)

HGVS:

NC_000017.11:g.7676572G>C
NG_017013.2:g.15979C>G
NM_000546.6:c.23C>GMANE SELECT
NM_001126112.3:c.23C>G
NM_001126113.3:c.23C>G
NM_001126114.3:c.23C>G
NM_001126118.2:c.-212C>G
NM_001276695.3:c.-95C>G
NM_001276696.3:c.-95C>G
NM_001276760.3:c.-95C>G
NM_001276761.3:c.-95C>G
NM_001407262.1:c.23C>G
NM_001407263.1:c.-95C>G
NM_001407264.1:c.23C>G
NM_001407265.1:c.-95C>G
NM_001407266.1:c.23C>G
NM_001407267.1:c.-95C>G
NM_001407268.1:c.23C>G
NM_001407269.1:c.-95C>G
NM_001407270.1:c.23C>G
NM_001407271.1:c.-95C>G
NP_000537.3:p.Pro8Arg
NP_000537.3:p.Pro8Arg
NP_001119584.1:p.Pro8Arg
NP_001119584.1:p.Pro8Arg
NP_001119585.1:p.Pro8Arg
NP_001119585.1:p.Pro8Arg
NP_001119586.1:p.Pro8Arg
NP_001119586.1:p.Pro8Arg
NP_001394191.1:p.Pro8Arg
NP_001394193.1:p.Pro8Arg
NP_001394195.1:p.Pro8Arg
NP_001394197.1:p.Pro8Arg
NP_001394199.1:p.Pro8Arg
LRG_321t1:c.23C>G
LRG_321t2:c.23C>G
LRG_321t3:c.23C>G
LRG_321t4:c.23C>G
LRG_321t8:c.-212C>G
LRG_321:g.15979C>G
LRG_321:p.Pro8Arg
LRG_321p1:p.Pro8Arg
LRG_321p3:p.Pro8Arg
LRG_321p4:p.Pro8Arg
NC_000017.10:g.7579890G>C
NM_000546.4:c.23C>G
NM_000546.5:c.23C>G
NM_001126112.2:c.23C>G
NM_001126113.2:c.23C>G
NM_001126114.2:c.23C>G
NM_001126118.1:c.-212C>G
NR_176326.1:n.165C>G

Protein change:

P8R

Molecular consequence:

NM_001126118.2:c.-212C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001276695.3:c.-95C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001276696.3:c.-95C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001276760.3:c.-95C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001276761.3:c.-95C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_000546.6:c.23C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001126112.3:c.23C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001126113.3:c.23C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001126114.3:c.23C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407262.1:c.23C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407264.1:c.23C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407266.1:c.23C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407268.1:c.23C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407270.1:c.23C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

Recent activity

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potassium voltage-gated channel subfamily KQT member 1 isoform X6 [Mus musculus]
potassium voltage-gated channel subfamily KQT member 1 isoform X6 [Mus musculus]
gi|568952654|ref|XP_006508555.1|

Protein
Homo sapiens calpain 5 (CAPN5), transcript variant 1, mRNA
Homo sapiens calpain 5 (CAPN5), transcript variant 1, mRNA
gi|1519314117|ref|NM_004055.5|

Nucleotide
T9SS type A sorting domain-containing protein [Pedobacter foliorum]
T9SS type A sorting domain-containing protein [Pedobacter foliorum]
gi|2226568844|ref|WP_246254509.1|

Protein
Tssr26738 AND (alive[prop]) (0)
Gene
PREDICTED: Homo sapiens ALG5 dolichyl-phosphate beta-glucosyltransferase (ALG5),...
PREDICTED: Homo sapiens ALG5 dolichyl-phosphate beta-glucosyltransferase (ALG5), transcript variant X1, mRNA
gi|2462536984|ref|XM_054374484.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002738526	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Likely benign (Feb 28, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002738526

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Likely benign
(Feb 28, 2022)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV002738526.2

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#	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: May 1, 2024

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