NM_000546.6(TP53):c.582T>C (p.Leu194=) AND not specified

Germline classification:: Benign/Likely benign (3 submissions)
Last evaluated:: Feb 6, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000432363.4

Allele description [Variation Report for NM_000546.6(TP53):c.582T>C (p.Leu194=)]

NM_000546.6(TP53):c.582T>C (p.Leu194=)

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.582T>C (p.Leu194=)

HGVS:

NC_000017.11:g.7674949A>G
NG_017013.2:g.17602T>C
NM_000546.6:c.582T>CMANE SELECT
NM_001126112.3:c.582T>C
NM_001126113.3:c.582T>C
NM_001126114.3:c.582T>C
NM_001126115.2:c.186T>C
NM_001126116.2:c.186T>C
NM_001126117.2:c.186T>C
NM_001126118.2:c.465T>C
NM_001276695.3:c.465T>C
NM_001276696.3:c.465T>C
NM_001276697.3:c.105T>C
NM_001276698.3:c.105T>C
NM_001276699.3:c.105T>C
NM_001276760.3:c.465T>C
NM_001276761.3:c.465T>C
NP_000537.3:p.Leu194=
NP_000537.3:p.Leu194=
NP_001119584.1:p.Leu194=
NP_001119585.1:p.Leu194=
NP_001119586.1:p.Leu194=
NP_001119587.1:p.Leu62=
NP_001119588.1:p.Leu62=
NP_001119589.1:p.Leu62=
NP_001119590.1:p.Leu155=
NP_001263624.1:p.Leu155=
NP_001263625.1:p.Leu155=
NP_001263626.1:p.Leu35=
NP_001263627.1:p.Leu35=
NP_001263628.1:p.Leu35=
NP_001263689.1:p.Leu155=
NP_001263690.1:p.Leu155=
LRG_321t1:c.582T>C
LRG_321:g.17602T>C
LRG_321p1:p.Leu194=
NC_000017.10:g.7578267A>G
NM_000546.4:c.582T>C
NM_000546.5:c.582T>C
p.L194L

Links:

dbSNP: rs370216745

NCBI 1000 Genomes Browser:

rs370216745

Molecular consequence:

NM_000546.6:c.582T>C - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001126112.3:c.582T>C - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001126113.3:c.582T>C - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001126114.3:c.582T>C - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001126115.2:c.186T>C - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001126116.2:c.186T>C - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001126117.2:c.186T>C - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001126118.2:c.465T>C - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001276695.3:c.465T>C - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001276696.3:c.465T>C - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001276697.3:c.105T>C - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001276698.3:c.105T>C - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001276699.3:c.105T>C - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001276760.3:c.465T>C - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001276761.3:c.465T>C - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV000514940	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Benign (Jul 9, 2015)	germline	clinical testing	Citation Link,
SCV001360863	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Likely benign (Aug 1, 2019)	germline	clinical testing	PubMed (14) [See all records that cite these PMIDs] 21343334, 20407015, 26230955, 21519010, 27463065, 25952993, 22186996, 27680515, 27959731, 16818505, 27895058, 30327374, 11782540, 27276561 Citation Link,
SCV004242759	Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Feb 6, 2024)	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

SCV000514940

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Benign
(Jul 9, 2015)

germline

clinical testing

Citation Link,

SCV001360863

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Likely benign
(Aug 1, 2019)

germline

clinical testing

PubMed (14)
[See all records that cite these PMIDs]

Citation Link,

SCV004242759

Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign
(Feb 6, 2024)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Dominant-negative features of mutant TP53 in germline carriers have limited impact on cancer outcomes.

Monti P, Perfumo C, Bisio A, Ciribilli Y, Menichini P, Russo D, Umbach DM, Resnick MA, Inga A, Fronza G.

Mol Cancer Res. 2011 Mar;9(3):271-9. doi: 10.1158/1541-7786.MCR-10-0496. Epub 2011 Feb 22.

PubMed [citation]

PMID:: 21343334
PMCID:: PMC3077904

Altered-function p53 missense mutations identified in breast cancers can have subtle effects on transactivation.

Jordan JJ, Inga A, Conway K, Edmiston S, Carey LA, Wu L, Resnick MA.

Mol Cancer Res. 2010 May;8(5):701-16. doi: 10.1158/1541-7786.MCR-09-0442. Epub 2010 Apr 20.

PubMed [citation]

PMID:: 20407015
PMCID:: PMC2873663

See all PubMed Citations (15)

Details of each submission

From GeneDx, SCV000514940.4

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

#	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 Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001360863.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (14)

#	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

From Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, SCV004242759.1

#	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	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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