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NM_000546.6(TP53):c.19G>C (p.Asp7His) AND Hereditary cancer-predisposing syndrome

Germline classification:
Conflicting interpretations of pathogenicity (3 submissions)
Last evaluated:
Jun 18, 2022
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:
RCV000132048.11

Allele description [Variation Report for NM_000546.6(TP53):c.19G>C (p.Asp7His)]

NM_000546.6(TP53):c.19G>C (p.Asp7His)

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.19G>C (p.Asp7His)
HGVS:
  • NC_000017.11:g.7676576C>G
  • NG_017013.2:g.15975G>C
  • NM_000546.6:c.19G>CMANE SELECT
  • NM_001126112.3:c.19G>C
  • NM_001126113.3:c.19G>C
  • NM_001126114.3:c.19G>C
  • NM_001126118.2:c.-216G>C
  • NM_001276695.3:c.-99G>C
  • NM_001276696.3:c.-99G>C
  • NM_001276760.3:c.-99G>C
  • NM_001276761.3:c.-99G>C
  • NP_000537.3:p.Asp7His
  • NP_000537.3:p.Asp7His
  • NP_001119584.1:p.Asp7His
  • NP_001119585.1:p.Asp7His
  • NP_001119586.1:p.Asp7His
  • LRG_321t1:c.19G>C
  • LRG_321:g.15975G>C
  • LRG_321p1:p.Asp7His
  • NC_000017.10:g.7579894C>G
  • NM_000546.4:c.19G>C
  • NM_000546.5:c.19G>C
  • P04637:p.Asp7His
  • p.D7H
Protein change:
D7H
Links:
UniProtKB: P04637#VAR_005851; dbSNP: rs587782646
NCBI 1000 Genomes Browser:
rs587782646
Molecular consequence:
  • NM_001126118.2:c.-216G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001276695.3:c.-99G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001276696.3:c.-99G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001276760.3:c.-99G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001276761.3:c.-99G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000546.6:c.19G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126112.3:c.19G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126113.3:c.19G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126114.3:c.19G>C - 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

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000187110Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Mar 16, 2021) 		germlineclinical testing

Citation Link,

SCV000686725Color Diagnostics, LLC DBA Color Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Sep 23, 2018) 		germlineclinical testing

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

SCV002582186Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jun 18, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

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, SCV000187110.8

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot 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.

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

From Color Diagnostics, LLC DBA Color Health, SCV000686725.2

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

From Genome-Nilou Lab, SCV002582186.1

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

Last Updated: Nov 10, 2024