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NM_000546.6(TP53):c.383del (p.Pro128fs) AND Li-Fraumeni syndrome 1

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Feb 13, 2024
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV002290462.3

Allele description [Variation Report for NM_000546.6(TP53):c.383del (p.Pro128fs)]

NM_000546.6(TP53):c.383del (p.Pro128fs)

Gene:
TP53:tumor protein p53 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17p13.1
Genomic location:
Preferred name:
NM_000546.6(TP53):c.383del (p.Pro128fs)
HGVS:
  • NC_000017.10:g.7578547del
  • NC_000017.11:g.7675232del
  • NG_017013.2:g.17322del
  • NM_000546.6:c.383delMANE SELECT
  • NM_001126112.3:c.383del
  • NM_001126113.3:c.383del
  • NM_001126114.3:c.383del
  • NM_001126115.2:c.-14del
  • NM_001126116.2:c.-14del
  • NM_001126117.2:c.-14del
  • NM_001126118.2:c.266del
  • NM_001276695.3:c.266del
  • NM_001276696.3:c.266del
  • NM_001276697.3:c.-95del
  • NM_001276698.3:c.-95del
  • NM_001276699.3:c.-95del
  • NM_001276760.3:c.266del
  • NM_001276761.3:c.266del
  • NP_000537.3:p.Pro128fs
  • NP_001119584.1:p.Pro128fs
  • NP_001119585.1:p.Pro128fs
  • NP_001119586.1:p.Pro128fs
  • NP_001119590.1:p.Pro89fs
  • NP_001263624.1:p.Pro89fs
  • NP_001263625.1:p.Pro89fs
  • NP_001263689.1:p.Pro89fs
  • NP_001263690.1:p.Pro89fs
  • LRG_321:g.17322del
  • NC_000017.10:g.7578547del
  • NC_000017.10:g.7578547delG
  • NC_000017.10:g.7578550del
  • NM_000546.5:c.383delC
  • NM_000546.6:c.383delCMANE SELECT
Protein change:
P128fs
Links:
dbSNP: rs1597371666
NCBI 1000 Genomes Browser:
rs1597371666
Molecular consequence:
  • NM_001126115.2:c.-14del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001126116.2:c.-14del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001126117.2:c.-14del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001276697.3:c.-95del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001276698.3:c.-95del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001276699.3:c.-95del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000546.6:c.383del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001126112.3:c.383del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001126113.3:c.383del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001126114.3:c.383del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001126118.2:c.266del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001276695.3:c.266del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001276696.3:c.266del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001276760.3:c.266del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001276761.3:c.266del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Li-Fraumeni syndrome 1 (LFS)
Identifiers:
Gene: 553989; MedGen: C1835398; Orphanet: 524; OMIM: 151623

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002583169Genome-Nilou Lab
criteria provided, single submitter

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

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

SCV004933232Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))		Pathogenic
(Feb 13, 2024) 		unknownclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot 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 Genome-Nilou Lab, SCV002583169.1

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

From Myriad Genetics, Inc., SCV004933232.1

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

Description

This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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

Last Updated: Sep 29, 2024