NM_000546.6(TP53):c.470_471delinsGT (p.Val157Gly) AND Li-Fraumeni syndrome 1

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Feb 14, 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:: RCV004440288.1

Allele description [Variation Report for NM_000546.6(TP53):c.470_471delinsGT (p.Val157Gly)]

NM_000546.6(TP53):c.470_471delinsGT (p.Val157Gly)

Gene:

TP53:tumor protein p53 [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

17p13.1

Genomic location:

Preferred name:

NM_000546.6(TP53):c.470_471delinsGT (p.Val157Gly)

HGVS:

NC_000017.11:g.7675141_7675142delinsAC
NG_017013.2:g.17409_17410delinsGT
NM_000546.6:c.470_471delinsGTMANE SELECT
NM_001126112.3:c.470_471delinsGT
NM_001126113.3:c.470_471delinsGT
NM_001126114.3:c.470_471delinsGT
NM_001126115.2:c.74_75delinsGT
NM_001126116.2:c.74_75delinsGT
NM_001126117.2:c.74_75delinsGT
NM_001126118.2:c.353_354delinsGT
NM_001276695.3:c.353_354delinsGT
NM_001276696.3:c.353_354delinsGT
NM_001276697.3:c.-8_-7delinsGT
NM_001276698.3:c.-8_-7delinsGT
NM_001276699.3:c.-8_-7delinsGT
NM_001276760.3:c.353_354delinsGT
NM_001276761.3:c.353_354delinsGT
NM_001407262.1:c.470_471delinsGT
NM_001407263.1:c.353_354delinsGT
NM_001407264.1:c.470_471delinsGT
NM_001407265.1:c.353_354delinsGT
NM_001407266.1:c.470_471delinsGT
NM_001407267.1:c.353_354delinsGT
NM_001407268.1:c.470_471delinsGT
NM_001407269.1:c.353_354delinsGT
NM_001407270.1:c.470_471delinsGT
NM_001407271.1:c.353_354delinsGT
NP_000537.3:p.Val157Gly
NP_000537.3:p.Val157Gly
NP_001119584.1:p.Val157Gly
NP_001119584.1:p.Val157Gly
NP_001119585.1:p.Val157Gly
NP_001119585.1:p.Val157Gly
NP_001119586.1:p.Val157Gly
NP_001119586.1:p.Val157Gly
NP_001119587.1:p.Val25Gly
NP_001119587.1:p.Val25Gly
NP_001119588.1:p.Val25Gly
NP_001119588.1:p.Val25Gly
NP_001119589.1:p.Val25Gly
NP_001119589.1:p.Val25Gly
NP_001119590.1:p.Val118Gly
NP_001119590.1:p.Val118Gly
NP_001263624.1:p.Val118Gly
NP_001263625.1:p.Val118Gly
NP_001263689.1:p.Val118Gly
NP_001263690.1:p.Val118Gly
NP_001394191.1:p.Val157Gly
NP_001394192.1:p.Val118Gly
NP_001394193.1:p.Val157Gly
NP_001394194.1:p.Val118Gly
NP_001394195.1:p.Val157Gly
NP_001394196.1:p.Val118Gly
NP_001394197.1:p.Val157Gly
NP_001394198.1:p.Val118Gly
NP_001394199.1:p.Val157Gly
NP_001394200.1:p.Val118Gly
LRG_321t1:c.470_471delTCinsGT
LRG_321t2:c.470_471delTCinsGT
LRG_321t3:c.470_471delTCinsGT
LRG_321t4:c.470_471delTCinsGT
LRG_321t5:c.74_75delTCinsGT
LRG_321t6:c.74_75delTCinsGT
LRG_321t7:c.74_75delTCinsGT
LRG_321t8:c.353_354delTCinsGT
LRG_321:g.17409_17410delinsGT
LRG_321:p.Val157Gly
LRG_321p1:p.Val157Gly
LRG_321p3:p.Val157Gly
LRG_321p4:p.Val157Gly
LRG_321p5:p.Val25Gly
LRG_321p6:p.Val25Gly
LRG_321p7:p.Val25Gly
LRG_321p8:p.Val118Gly
NC_000017.10:g.7578459_7578460delinsAC
NM_000546.5:c.470_471delTCinsGT
NM_001126112.2:c.470_471delTCinsGT
NM_001126113.2:c.470_471delTCinsGT
NM_001126114.2:c.470_471delTCinsGT
NM_001126115.1:c.74_75delTCinsGT
NM_001126116.1:c.74_75delTCinsGT
NM_001126117.1:c.74_75delTCinsGT
NM_001126118.1:c.353_354delTCinsGT
NR_176326.1:n.612_613delinsGT

Protein change:

V118G

Molecular consequence:

NM_001276697.3:c.-8_-7delinsGT - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001276698.3:c.-8_-7delinsGT - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001276699.3:c.-8_-7delinsGT - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_000546.6:c.470_471delinsGT - missense variant - [Sequence Ontology: SO:0001583]
NM_001126112.3:c.470_471delinsGT - missense variant - [Sequence Ontology: SO:0001583]
NM_001126113.3:c.470_471delinsGT - missense variant - [Sequence Ontology: SO:0001583]
NM_001126114.3:c.470_471delinsGT - missense variant - [Sequence Ontology: SO:0001583]
NM_001126115.2:c.74_75delinsGT - missense variant - [Sequence Ontology: SO:0001583]
NM_001126116.2:c.74_75delinsGT - missense variant - [Sequence Ontology: SO:0001583]
NM_001126117.2:c.74_75delinsGT - missense variant - [Sequence Ontology: SO:0001583]
NM_001126118.2:c.353_354delinsGT - missense variant - [Sequence Ontology: SO:0001583]
NM_001276695.3:c.353_354delinsGT - missense variant - [Sequence Ontology: SO:0001583]
NM_001276696.3:c.353_354delinsGT - missense variant - [Sequence Ontology: SO:0001583]
NM_001276760.3:c.353_354delinsGT - missense variant - [Sequence Ontology: SO:0001583]
NM_001276761.3:c.353_354delinsGT - missense variant - [Sequence Ontology: SO:0001583]
NM_001407262.1:c.470_471delinsGT - missense variant - [Sequence Ontology: SO:0001583]
NM_001407263.1:c.353_354delinsGT - missense variant - [Sequence Ontology: SO:0001583]
NM_001407264.1:c.470_471delinsGT - missense variant - [Sequence Ontology: SO:0001583]
NM_001407265.1:c.353_354delinsGT - missense variant - [Sequence Ontology: SO:0001583]
NM_001407266.1:c.470_471delinsGT - missense variant - [Sequence Ontology: SO:0001583]
NM_001407267.1:c.353_354delinsGT - missense variant - [Sequence Ontology: SO:0001583]
NM_001407268.1:c.470_471delinsGT - missense variant - [Sequence Ontology: SO:0001583]
NM_001407269.1:c.353_354delinsGT - missense variant - [Sequence Ontology: SO:0001583]
NM_001407270.1:c.470_471delinsGT - missense variant - [Sequence Ontology: SO:0001583]
NM_001407271.1:c.353_354delinsGT - missense variant - [Sequence Ontology: SO:0001583]
NR_176326.1:n.612_613delinsGT - 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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004932590	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))	Likely pathogenic (Feb 14, 2024)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004932590

Myriad Genetics, Inc.

criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))

Likely pathogenic
(Feb 14, 2024)

unknown

clinical testing

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

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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., SCV004932590.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 7, 2024

ClinVar

Relating variation to medicine