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NM_000546.6(TP53):c.897_898insA (p.Pro300fs) AND Li-Fraumeni syndrome 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 21, 2024
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:
RCV004440163.1

Allele description [Variation Report for NM_000546.6(TP53):c.897_898insA (p.Pro300fs)]

NM_000546.6(TP53):c.897_898insA (p.Pro300fs)

Gene:
TP53:tumor protein p53 [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
17p13.1
Genomic location:
Preferred name:
NM_000546.6(TP53):c.897_898insA (p.Pro300fs)
HGVS:
  • NC_000017.11:g.7673722_7673723insT
  • NG_017013.2:g.18828_18829insA
  • NM_000546.6:c.897_898insAMANE SELECT
  • NM_001126112.3:c.897_898insA
  • NM_001126113.3:c.897_898insA
  • NM_001126114.3:c.897_898insA
  • NM_001126115.2:c.501_502insA
  • NM_001126116.2:c.501_502insA
  • NM_001126117.2:c.501_502insA
  • NM_001126118.2:c.780_781insA
  • NM_001276695.3:c.780_781insA
  • NM_001276696.3:c.780_781insA
  • NM_001276697.3:c.420_421insA
  • NM_001276698.3:c.420_421insA
  • NM_001276699.3:c.420_421insA
  • NM_001276760.3:c.780_781insA
  • NM_001276761.3:c.780_781insA
  • NM_001407262.1:c.897_898insA
  • NM_001407263.1:c.780_781insA
  • NM_001407264.1:c.897_898insA
  • NM_001407265.1:c.780_781insA
  • NM_001407266.1:c.897_898insA
  • NM_001407267.1:c.780_781insA
  • NM_001407268.1:c.897_898insA
  • NM_001407269.1:c.780_781insA
  • NM_001407270.1:c.897_898insA
  • NM_001407271.1:c.780_781insA
  • NP_000537.3:p.Pro300Thrfs
  • NP_000537.3:p.Pro300fs
  • NP_001119584.1:p.Pro300Thrfs
  • NP_001119584.1:p.Pro300fs
  • NP_001119585.1:p.Pro300Thrfs
  • NP_001119585.1:p.Pro300fs
  • NP_001119586.1:p.Pro300Thrfs
  • NP_001119586.1:p.Pro300fs
  • NP_001119587.1:p.Pro168Thrfs
  • NP_001119587.1:p.Pro168fs
  • NP_001119588.1:p.Pro168Thrfs
  • NP_001119588.1:p.Pro168fs
  • NP_001119589.1:p.Pro168Thrfs
  • NP_001119589.1:p.Pro168fs
  • NP_001119590.1:p.Pro261Thrfs
  • NP_001119590.1:p.Pro261fs
  • NP_001263624.1:p.Pro261fs
  • NP_001263625.1:p.Pro261fs
  • NP_001263626.1:p.Pro141fs
  • NP_001263627.1:p.Pro141fs
  • NP_001263628.1:p.Pro141fs
  • NP_001263689.1:p.Pro261fs
  • NP_001263690.1:p.Pro261fs
  • NP_001394191.1:p.Pro300fs
  • NP_001394192.1:p.Pro261fs
  • NP_001394193.1:p.Pro300fs
  • NP_001394194.1:p.Pro261fs
  • NP_001394195.1:p.Pro300fs
  • NP_001394196.1:p.Pro261fs
  • NP_001394197.1:p.Pro300fs
  • NP_001394198.1:p.Pro261fs
  • NP_001394199.1:p.Pro300fs
  • NP_001394200.1:p.Pro261fs
  • LRG_321t1:c.897_898insA
  • LRG_321t2:c.897_898insA
  • LRG_321t3:c.897_898insA
  • LRG_321t4:c.897_898insA
  • LRG_321t5:c.501_502insA
  • LRG_321t6:c.501_502insA
  • LRG_321t7:c.501_502insA
  • LRG_321t8:c.780_781insA
  • LRG_321:g.18828_18829insA
  • LRG_321:p.Pro300Thrfs
  • LRG_321p1:p.Pro300Thrfs
  • LRG_321p3:p.Pro300Thrfs
  • LRG_321p4:p.Pro300Thrfs
  • LRG_321p5:p.Pro168Thrfs
  • LRG_321p6:p.Pro168Thrfs
  • LRG_321p7:p.Pro168Thrfs
  • LRG_321p8:p.Pro261Thrfs
  • NC_000017.10:g.7577040_7577041insT
  • NM_000546.5:c.897_898insA
  • NM_001126112.2:c.897_898insA
  • NM_001126113.2:c.897_898insA
  • NM_001126114.2:c.897_898insA
  • NM_001126115.1:c.501_502insA
  • NM_001126116.1:c.501_502insA
  • NM_001126117.1:c.501_502insA
  • NM_001126118.1:c.780_781insA
  • NR_176326.1:n.926_927insA
Protein change:
P141fs
Molecular consequence:
  • NM_000546.6:c.897_898insA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001126112.3:c.897_898insA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001126113.3:c.897_898insA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001126114.3:c.897_898insA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001126115.2:c.501_502insA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001126116.2:c.501_502insA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001126117.2:c.501_502insA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001126118.2:c.780_781insA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001276695.3:c.780_781insA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001276696.3:c.780_781insA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001276697.3:c.420_421insA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001276698.3:c.420_421insA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001276699.3:c.420_421insA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001276760.3:c.780_781insA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001276761.3:c.780_781insA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407262.1:c.897_898insA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407263.1:c.780_781insA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407264.1:c.897_898insA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407265.1:c.780_781insA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407266.1:c.897_898insA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407267.1:c.780_781insA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407268.1:c.897_898insA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407269.1:c.780_781insA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407270.1:c.897_898insA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407271.1:c.780_781insA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_176326.1:n.926_927insA - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV004931426Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))		Pathogenic
(Feb 21, 2024) 		unknownclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Myriad Genetics, Inc., SCV004931426.1

#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: May 7, 2024