NM_000546.6(TP53):c.943T>A (p.Ser315Thr) AND Hereditary cancer-predisposing syndrome

Clinical significance:Conflicting interpretations of pathogenicity, Likely benign(1);Uncertain significance(1) (Last evaluated: Jan 17, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000164586.6

Allele description [Variation Report for NM_000546.6(TP53):c.943T>A (p.Ser315Thr)]

NM_000546.6(TP53):c.943T>A (p.Ser315Thr)

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.943T>A (p.Ser315Thr)
HGVS:
  • NC_000017.11:g.7673585A>T
  • NG_017013.2:g.18966T>A
  • NM_000546.6:c.943T>AMANE SELECT
  • NM_001126112.3:c.943T>A
  • NM_001126113.3:c.943T>A
  • NM_001126114.3:c.943T>A
  • NM_001126115.2:c.547T>A
  • NM_001126116.2:c.547T>A
  • NM_001126117.2:c.547T>A
  • NM_001126118.2:c.826T>A
  • NM_001276695.3:c.826T>A
  • NM_001276696.3:c.826T>A
  • NM_001276697.3:c.466T>A
  • NM_001276698.3:c.466T>A
  • NM_001276699.3:c.466T>A
  • NM_001276760.3:c.826T>A
  • NM_001276761.3:c.826T>A
  • NP_000537.3:p.Ser315Thr
  • NP_000537.3:p.Ser315Thr
  • NP_001119584.1:p.Ser315Thr
  • NP_001119585.1:p.Ser315Thr
  • NP_001119586.1:p.Ser315Thr
  • NP_001119587.1:p.Ser183Thr
  • NP_001119588.1:p.Ser183Thr
  • NP_001119589.1:p.Ser183Thr
  • NP_001119590.1:p.Ser276Thr
  • NP_001263624.1:p.Ser276Thr
  • NP_001263625.1:p.Ser276Thr
  • NP_001263626.1:p.Ser156Thr
  • NP_001263627.1:p.Ser156Thr
  • NP_001263628.1:p.Ser156Thr
  • NP_001263689.1:p.Ser276Thr
  • NP_001263690.1:p.Ser276Thr
  • LRG_321t1:c.943T>A
  • LRG_321t2:c.943T>A
  • LRG_321:g.18966T>A
  • LRG_321p1:p.Ser315Thr
  • NC_000017.10:g.7576903A>T
  • NM_000546.4:c.943T>A
  • NM_000546.5:c.943T>A
  • NM_001126112.2(TP53):c.943T>A
  • p.S315T
  • p.Ser315Thr
Protein change:
S156T
Links:
dbSNP: rs762620193
NCBI 1000 Genomes Browser:
rs762620193
Molecular consequence:
  • NM_000546.6:c.943T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126112.3:c.943T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126113.3:c.943T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126114.3:c.943T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126115.2:c.547T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126116.2:c.547T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126117.2:c.547T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126118.2:c.826T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276695.3:c.826T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276696.3:c.826T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276697.3:c.466T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276698.3:c.466T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276699.3:c.466T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276760.3:c.826T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276761.3:c.826T>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000215245Ambry Geneticscriteria provided, single submitter
Likely benign
(Jan 17, 2020)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link,

SCV000908779Color Health, Inccriteria provided, single submitter
Uncertain significance
(Apr 10, 2019)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

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

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 Ambry Genetics, SCV000215245.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

In silico models in agreement (benign);Other data supporting benign classification

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

From Color Health, Inc, SCV000908779.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 4, 2021

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