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NM_000546.6(TP53):c.1020G>T (p.Met340Ile) AND Hereditary cancer-predisposing syndrome

Germline classification:
Likely benign (1 submission)
Last evaluated:
Oct 30, 2020
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:
RCV002393827.2

Allele description [Variation Report for NM_000546.6(TP53):c.1020G>T (p.Met340Ile)]

NM_000546.6(TP53):c.1020G>T (p.Met340Ile)

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.1020G>T (p.Met340Ile)
HGVS:
  • NC_000017.11:g.7670689C>A
  • NG_017013.2:g.21862G>T
  • NM_000546.6:c.1020G>TMANE SELECT
  • NM_001126112.3:c.1020G>T
  • NM_001126113.3:c.*39G>T
  • NM_001126114.3:c.*127G>T
  • NM_001126115.2:c.624G>T
  • NM_001126116.2:c.*127G>T
  • NM_001126117.2:c.*39G>T
  • NM_001126118.2:c.903G>T
  • NM_001276695.3:c.*39G>T
  • NM_001276696.3:c.*127G>T
  • NM_001276697.3:c.543G>T
  • NM_001276698.3:c.*127G>T
  • NM_001276699.3:c.*39G>T
  • NM_001276760.3:c.903G>T
  • NM_001276761.3:c.903G>T
  • NM_001407262.1:c.1020G>T
  • NM_001407263.1:c.903G>T
  • NM_001407264.1:c.1020G>T
  • NM_001407265.1:c.903G>T
  • NM_001407266.1:c.1020G>T
  • NM_001407267.1:c.903G>T
  • NM_001407268.1:c.*127G>T
  • NM_001407269.1:c.*127G>T
  • NM_001407270.1:c.*127G>T
  • NM_001407271.1:c.*127G>T
  • NP_000537.3:p.Met340Ile
  • NP_000537.3:p.Met340Ile
  • NP_001119584.1:p.Met340Ile
  • NP_001119584.1:p.Met340Ile
  • NP_001119587.1:p.Met208Ile
  • NP_001119587.1:p.Met208Ile
  • NP_001119590.1:p.Met301Ile
  • NP_001119590.1:p.Met301Ile
  • NP_001263626.1:p.Met181Ile
  • NP_001263689.1:p.Met301Ile
  • NP_001263690.1:p.Met301Ile
  • NP_001394191.1:p.Met340Ile
  • NP_001394192.1:p.Met301Ile
  • NP_001394193.1:p.Met340Ile
  • NP_001394194.1:p.Met301Ile
  • NP_001394195.1:p.Met340Ile
  • NP_001394196.1:p.Met301Ile
  • LRG_321t1:c.1020G>T
  • LRG_321t2:c.1020G>T
  • LRG_321t3:c.*127G>T
  • LRG_321t4:c.*39G>T
  • LRG_321t5:c.624G>T
  • LRG_321t6:c.*127G>T
  • LRG_321t7:c.*39G>T
  • LRG_321t8:c.903G>T
  • LRG_321:g.21862G>T
  • LRG_321:p.Met340Ile
  • LRG_321p1:p.Met340Ile
  • LRG_321p5:p.Met208Ile
  • LRG_321p8:p.Met301Ile
  • NC_000017.10:g.7574007C>A
  • NM_000546.4:c.1020G>T
  • NM_000546.5:c.1020G>T
  • NM_001126112.2:c.1020G>T
  • NM_001126113.2:c.*39G>T
  • NM_001126114.2:c.*127G>T
  • NM_001126115.1:c.624G>T
  • NM_001126116.1:c.*127G>T
  • NM_001126117.1:c.*39G>T
  • NM_001126118.1:c.903G>T
  • NR_176326.1:n.1049G>T
Protein change:
M181I
Molecular consequence:
  • NM_001126113.3:c.*39G>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001126114.3:c.*127G>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001126116.2:c.*127G>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001126117.2:c.*39G>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001276695.3:c.*39G>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001276696.3:c.*127G>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001276698.3:c.*127G>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001276699.3:c.*39G>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_000546.6:c.1020G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126112.3:c.1020G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126115.2:c.624G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126118.2:c.903G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276697.3:c.543G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276760.3:c.903G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276761.3:c.903G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407262.1:c.1020G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407263.1:c.903G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407264.1:c.1020G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407265.1:c.903G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407266.1:c.1020G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407267.1:c.903G>T - 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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002675112Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Oct 30, 2020) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Mutually compensatory mutations during evolution of the tetramerization domain of tumor suppressor p53 lead to impaired hetero-oligomerization.

Mateu MG, Fersht AR.

Proc Natl Acad Sci U S A. 1999 Mar 30;96(7):3595-9.

PubMed [citation]
PMID:
10097082
PMCID:
PMC22339

Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis.

Kato S, Han SY, Liu W, Otsuka K, Shibata H, Kanamaru R, Ishioka C.

Proc Natl Acad Sci U S A. 2003 Jul 8;100(14):8424-9. Epub 2003 Jun 25.

PubMed [citation]
PMID:
12826609
PMCID:
PMC166245
See all PubMed Citations (4)

Details of each submission

From Ambry Genetics, SCV002675112.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

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.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 1, 2024