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NM_000546.6(TP53):c.316_336del (p.Ser106_Gly112del) AND Li-Fraumeni syndrome 1

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Feb 12, 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:
RCV004440353.1

Allele description [Variation Report for NM_000546.6(TP53):c.316_336del (p.Ser106_Gly112del)]

NM_000546.6(TP53):c.316_336del (p.Ser106_Gly112del)

Gene:
TP53:tumor protein p53 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17p13.1
Genomic location:
Preferred name:
NM_000546.6(TP53):c.316_336del (p.Ser106_Gly112del)
HGVS:
  • NC_000017.11:g.7676037_7676057del
  • NG_017013.2:g.16498_16518del
  • NM_000546.6:c.316_336delMANE SELECT
  • NM_001126112.3:c.316_336del
  • NM_001126113.3:c.316_336del
  • NM_001126114.3:c.316_336del
  • NM_001126118.2:c.199_219del
  • NM_001276695.3:c.199_219del
  • NM_001276696.3:c.199_219del
  • NM_001276760.3:c.199_219del
  • NM_001276761.3:c.199_219del
  • NM_001407262.1:c.316_336del
  • NM_001407263.1:c.199_219del
  • NM_001407264.1:c.316_336del
  • NM_001407265.1:c.199_219del
  • NM_001407266.1:c.316_336del
  • NM_001407267.1:c.199_219del
  • NM_001407268.1:c.316_336del
  • NM_001407269.1:c.199_219del
  • NM_001407270.1:c.316_336del
  • NM_001407271.1:c.199_219del
  • NP_000537.3:p.Ser106_Gly112del
  • NP_000537.3:p.Ser106_Gly112del
  • NP_001119584.1:p.Ser106_Gly112del
  • NP_001119584.1:p.Ser106_Gly112del
  • NP_001119585.1:p.Ser106_Gly112del
  • NP_001119585.1:p.Ser106_Gly112del
  • NP_001119586.1:p.Ser106_Gly112del
  • NP_001119586.1:p.Ser106_Gly112del
  • NP_001119590.1:p.Ser67_Gly73del
  • NP_001119590.1:p.Ser67_Gly73del
  • NP_001263624.1:p.Ser67_Gly73del
  • NP_001263625.1:p.Ser67_Gly73del
  • NP_001263689.1:p.Ser67_Gly73del
  • NP_001263690.1:p.Ser67_Gly73del
  • NP_001394191.1:p.Ser106_Gly112del
  • NP_001394192.1:p.Ser67_Gly73del
  • NP_001394193.1:p.Ser106_Gly112del
  • NP_001394194.1:p.Ser67_Gly73del
  • NP_001394195.1:p.Ser106_Gly112del
  • NP_001394196.1:p.Ser67_Gly73del
  • NP_001394197.1:p.Ser106_Gly112del
  • NP_001394198.1:p.Ser67_Gly73del
  • NP_001394199.1:p.Ser106_Gly112del
  • NP_001394200.1:p.Ser67_Gly73del
  • LRG_321t1:c.312_332del21
  • LRG_321t2:c.312_332del21
  • LRG_321t3:c.312_332del21
  • LRG_321t4:c.312_332del21
  • LRG_321t8:c.195_215del21
  • LRG_321:g.16498_16518del
  • LRG_321:p.Ser106_Gly112del
  • LRG_321p1:p.Ser106_Gly112del
  • LRG_321p3:p.Ser106_Gly112del
  • LRG_321p4:p.Ser106_Gly112del
  • LRG_321p8:p.Ser67_Gly73del
  • NC_000017.10:g.7579355_7579375del
  • NM_000546.5:c.312_332del21
  • NM_001126112.2:c.312_332del21
  • NM_001126113.2:c.312_332del21
  • NM_001126114.2:c.312_332del21
  • NM_001126118.1:c.195_215del21
  • NR_176326.1:n.458_478del
Molecular consequence:
  • NM_000546.6:c.316_336del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001126112.3:c.316_336del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001126113.3:c.316_336del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001126114.3:c.316_336del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001126118.2:c.199_219del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001276695.3:c.199_219del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001276696.3:c.199_219del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001276760.3:c.199_219del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001276761.3:c.199_219del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407262.1:c.316_336del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407263.1:c.199_219del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407264.1:c.316_336del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407265.1:c.199_219del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407266.1:c.316_336del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407267.1:c.199_219del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407268.1:c.316_336del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407269.1:c.199_219del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407270.1:c.316_336del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407271.1:c.199_219del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NR_176326.1:n.458_478del - 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
SCV004932764Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))		Likely pathogenic
(Feb 12, 2024) 		unknownclinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

A Systematic p53 Mutation Library Links Differential Functional Impact to Cancer Mutation Pattern and Evolutionary Conservation.

Kotler E, Shani O, Goldfeld G, Lotan-Pompan M, Tarcic O, Gershoni A, Hopf TA, Marks DS, Oren M, Segal E.

Mol Cell. 2018 Jul 5;71(1):178-190.e8. doi: 10.1016/j.molcel.2018.06.012. Erratum in: Mol Cell. 2018 Sep 6;71(5):873. doi: 10.1016/j.molcel.2018.08.013.

PubMed [citation]
PMID:
29979965

Details of each submission

From Myriad Genetics, Inc., SCV004932764.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant is considered likely pathogenic. Functional studies indicate this variant impacts protein function [PMID: 29979965]. This variant is expected to disrupt protein structure [Myriad internal data].

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

Last Updated: May 7, 2024