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NM_000546.6(TP53):c.96+41_97-54del AND Hereditary cancer-predisposing syndrome

Germline classification:
Benign (2 submissions)
Last evaluated:
Jun 18, 2022
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:
RCV000161045.5

Allele description [Variation Report for NM_000546.6(TP53):c.96+41_97-54del]

NM_000546.6(TP53):c.96+41_97-54del

Gene:
TP53:tumor protein p53 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
17p13.1
Genomic location:
Preferred name:
NM_000546.6(TP53):c.96+41_97-54del
HGVS:
  • NC_000017.11:g.7676335TCCAGGTCCCCAGCCC[1]
  • NG_017013.2:g.16194ACCTGGAGGGCTGGGG[1]
  • NM_000546.6:c.96+41_97-54delMANE SELECT
  • NM_001126112.3:c.96+41_97-54del
  • NM_001126113.3:c.96+41_97-54del
  • NM_001126114.3:c.96+41_97-54del
  • NM_001126118.2:c.-22+41_-21-54del
  • NM_001276695.3:c.-22+41_-21-54del
  • NM_001276696.3:c.-22+41_-21-54del
  • NM_001276760.3:c.-22+41_-21-54del
  • NM_001276761.3:c.-22+41_-21-54del
  • LRG_321t1:c.96+41_97-54del
  • LRG_321:g.16194ACCTGGAGGGCTGGGG[1]
  • NC_000017.10:g.7579653TCCAGGTCCCCAGCCC[1]
  • NC_000017.10:g.7579669_7579684delTCCAGGTCCCCAGCCC
  • NM_000546.4:c.96+16_96+31delGGGCTGGGGACCTGGA
  • NM_000546.5:c.96+41_97-54del
Links:
dbSNP: rs59758982
NCBI 1000 Genomes Browser:
rs59758982
Molecular consequence:
  • NM_000546.6:c.96+41_97-54del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001126112.3:c.96+41_97-54del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001126113.3:c.96+41_97-54del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001126114.3:c.96+41_97-54del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001126118.2:c.-22+41_-21-54del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001276695.3:c.-22+41_-21-54del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001276696.3:c.-22+41_-21-54del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001276760.3:c.-22+41_-21-54del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001276761.3:c.-22+41_-21-54del - intron variant - [Sequence Ontology: SO:0001627]

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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002582432Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)
Benign
(Jun 18, 2022)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot providednot providednot providednot providednot providedclinical testing
not providedgermlineyesnot 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 GeneDx, SCV000211775.2

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

Description

The variant is found in HEREDICANCER,COLO-HEREDIC,BR-OV-HEREDIC panel(s).

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

From Genome-Nilou Lab, SCV002582432.1

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

Flagged submissions

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000211775GeneDx
flagged submission
Reason: This record appears to be redundant with a more recent record from the same submitter.
Notes: SCV000211775 appears to be redundant with SCV001849336.

(GeneDx Variant Classification (06012015))
Benign
(Oct 15, 2013)
germlineclinical testing

Citation Link

Last Updated: Dec 24, 2023