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NM_000546.6(TP53):c.672+1G>T AND Breast carcinoma

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 14, 2021
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001644809.2

Allele description [Variation Report for NM_000546.6(TP53):c.672+1G>T]

NM_000546.6(TP53):c.672+1G>T

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.672+1G>T
HGVS:
  • NC_000017.11:g.7674858C>A
  • NG_017013.2:g.17693G>T
  • NM_000546.6:c.672+1G>TMANE SELECT
  • NM_001126112.3:c.672+1G>T
  • NM_001126113.3:c.672+1G>T
  • NM_001126114.3:c.672+1G>T
  • NM_001126115.2:c.276+1G>T
  • NM_001126116.2:c.276+1G>T
  • NM_001126117.2:c.276+1G>T
  • NM_001126118.2:c.555+1G>T
  • NM_001276695.3:c.555+1G>T
  • NM_001276696.3:c.555+1G>T
  • NM_001276697.3:c.195+1G>T
  • NM_001276698.3:c.195+1G>T
  • NM_001276699.3:c.195+1G>T
  • NM_001276760.3:c.555+1G>T
  • NM_001276761.3:c.555+1G>T
  • NM_001407262.1:c.672+1G>T
  • NM_001407263.1:c.555+1G>T
  • NM_001407264.1:c.672+1G>T
  • NM_001407265.1:c.555+1G>T
  • NM_001407266.1:c.672+1G>T
  • NM_001407267.1:c.555+1G>T
  • NM_001407268.1:c.672+1G>T
  • NM_001407269.1:c.555+1G>T
  • NM_001407270.1:c.672+1G>T
  • NM_001407271.1:c.555+1G>T
  • LRG_321t1:c.672+1G>T
  • LRG_321:g.17693G>T
  • NC_000017.10:g.7578176C>A
  • NM_000546.5:c.672+1G>T
Links:
dbSNP: rs863224499
NCBI 1000 Genomes Browser:
rs863224499
Molecular consequence:
  • NM_000546.6:c.672+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001126112.3:c.672+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001126113.3:c.672+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001126114.3:c.672+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001126115.2:c.276+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001126116.2:c.276+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001126117.2:c.276+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001126118.2:c.555+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001276695.3:c.555+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001276696.3:c.555+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001276697.3:c.195+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001276698.3:c.195+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001276699.3:c.195+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001276760.3:c.555+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001276761.3:c.555+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407262.1:c.672+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407263.1:c.555+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407264.1:c.672+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407265.1:c.555+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407266.1:c.672+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407267.1:c.555+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407268.1:c.672+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407269.1:c.555+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407270.1:c.672+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407271.1:c.555+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
Functional consequence:
sequence_variant_affecting_splicing [Sequence Ontology: SO:1000071] - Comment(s)
Observations:
1

Condition(s)

Name:
Breast carcinoma
Synonyms:
Carcinoma of breast
Identifiers:
MONDO: MONDO:0004989; MedGen: C0678222; Human Phenotype Ontology: HP:0003002

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001860282Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences
no assertion criteria provided
Pathogenic
(Sep 14, 2021) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences, SCV001860282.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jul 15, 2024