NM_000546.6(TP53):c.598_636dup (p.Asn200_Phe212dup) AND Li-Fraumeni syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 22, 2020
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:: RCV001300658.7

Allele description [Variation Report for NM_000546.6(TP53):c.598_636dup (p.Asn200_Phe212dup)]

NM_000546.6(TP53):c.598_636dup (p.Asn200_Phe212dup)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

17p13.1

Genomic location:

Preferred name:

NM_000546.6(TP53):c.598_636dup (p.Asn200_Phe212dup)

HGVS:

NC_000017.11:g.7674895_7674933dup
NG_017013.2:g.17618_17656dup
NM_000546.6:c.598_636dupMANE SELECT
NM_001126112.3:c.598_636dup
NM_001126113.3:c.598_636dup
NM_001126114.3:c.598_636dup
NM_001126115.2:c.202_240dup
NM_001126116.2:c.202_240dup
NM_001126117.2:c.202_240dup
NM_001126118.2:c.481_519dup
NM_001276695.3:c.481_519dup
NM_001276696.3:c.481_519dup
NM_001276697.3:c.121_159dup
NM_001276698.3:c.121_159dup
NM_001276699.3:c.121_159dup
NM_001276760.3:c.481_519dup
NM_001276761.3:c.481_519dup
NP_000537.3:p.Asn200_Phe212dup
NP_001119584.1:p.Asn200_Phe212dup
NP_001119585.1:p.Asn200_Phe212dup
NP_001119586.1:p.Asn200_Phe212dup
NP_001119587.1:p.Asn68_Phe80dup
NP_001119588.1:p.Asn68_Phe80dup
NP_001119589.1:p.Asn68_Phe80dup
NP_001119590.1:p.Asn161_Phe173dup
NP_001263624.1:p.Asn161_Phe173dup
NP_001263625.1:p.Asn161_Phe173dup
NP_001263626.1:p.Asn41_Phe53dup
NP_001263627.1:p.Asn41_Phe53dup
NP_001263628.1:p.Asn41_Phe53dup
NP_001263689.1:p.Asn161_Phe173dup
NP_001263690.1:p.Asn161_Phe173dup
LRG_321:g.17618_17656dup
NC_000017.10:g.7578212_7578213insAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATT
NC_000017.10:g.7578213_7578251dup

Links:

dbSNP: rs2073330862

NCBI 1000 Genomes Browser:

rs2073330862

Molecular consequence:

NM_000546.6:c.598_636dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001126112.3:c.598_636dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001126113.3:c.598_636dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001126114.3:c.598_636dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001126115.2:c.202_240dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001126116.2:c.202_240dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001126117.2:c.202_240dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001126118.2:c.481_519dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001276695.3:c.481_519dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001276696.3:c.481_519dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001276697.3:c.121_159dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001276698.3:c.121_159dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001276699.3:c.121_159dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001276760.3:c.481_519dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001276761.3:c.481_519dup - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

Name:: Li-Fraumeni syndrome (LFS)
Synonyms:: Sarcoma family syndrome of Li and Fraumeni
Identifiers:: MONDO: MONDO:0018875; MedGen: C0085390; OMIM: PS151623

Recent activity

Clear Turn Off Turn On

sodium/hydrogen exchanger 8 [Rattus norvegicus]
sodium/hydrogen exchanger 8 [Rattus norvegicus]
gi|2041015953|ref|NP_001020452.2|

Protein

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
SCV001489806	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Mar 22, 2020)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001489806

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Mar 22, 2020)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001489806.4

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

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals with TP53-related conditions. This variant is not present in population databases (ExAC no frequency). This variant, c.598_636dup, results in the insertion of 13 amino acid(s) to the TP53 protein (p.Asn200_Phe212dup), but otherwise preserves the integrity of the reading frame.

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

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine