NM_000546.6(TP53):c.783-13C>G AND Li-Fraumeni syndrome

This record was updated by the submitter. Please see the current version.

Germline classification:: Likely benign (1 submission)
Last evaluated:: Aug 18, 2023
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:: RCV003509588.1

Allele description

NM_000546.6(TP53):c.783-13C>G

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.1

Genomic location:

Preferred name:

NM_000546.6(TP53):c.783-13C>G

HGVS:

NC_000017.11:g.7673850G>C
NG_017013.2:g.18701C>G
NM_000546.6:c.783-13C>GMANE SELECT
NM_001126112.3:c.783-13C>G
NM_001126113.3:c.783-13C>G
NM_001126114.3:c.783-13C>G
NM_001126115.2:c.387-13C>G
NM_001126116.2:c.387-13C>G
NM_001126117.2:c.387-13C>G
NM_001126118.2:c.666-13C>G
NM_001276695.3:c.666-13C>G
NM_001276696.3:c.666-13C>G
NM_001276697.3:c.306-13C>G
NM_001276698.3:c.306-13C>G
NM_001276699.3:c.306-13C>G
NM_001276760.3:c.666-13C>G
NM_001276761.3:c.666-13C>G
LRG_321t1:c.783-13C>G
LRG_321:g.18701C>G
NC_000017.10:g.7577168G>C
NM_000546.5:c.783-13C>G

Links:

dbSNP: rs1555525373

NCBI 1000 Genomes Browser:

rs1555525373

Molecular consequence:

NM_000546.6:c.783-13C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001126112.3:c.783-13C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001126113.3:c.783-13C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001126114.3:c.783-13C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001126115.2:c.387-13C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001126116.2:c.387-13C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001126117.2:c.387-13C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001126118.2:c.666-13C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001276695.3:c.666-13C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001276696.3:c.666-13C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001276697.3:c.306-13C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001276698.3:c.306-13C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001276699.3:c.306-13C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001276760.3:c.666-13C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001276761.3:c.666-13C>G - intron variant - [Sequence Ontology: SO:0001627]

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

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cytochrome oxidase subunit 1, partial (mitochondrion) [Encyrtidae sp. BOLD-2016]
cytochrome oxidase subunit 1, partial (mitochondrion) [Encyrtidae sp. BOLD-2016]
gi|1063181235|gb|AON91719.1|

Protein
Mus musculus adult male cerebellum cDNA, RIKEN full-length enriched library, clo...
Mus musculus adult male cerebellum cDNA, RIKEN full-length enriched library, clone:1500032G08 product:small nuclear ribonucleoprotein D3, full insert sequence
gi|12837821|dbj|AK005341.1|

Nucleotide
Mus musculus 10, 11 days embryo whole body cDNA, RIKEN full-length enriched libr...
Mus musculus 10, 11 days embryo whole body cDNA, RIKEN full-length enriched library, clone:2810430A08 product:RIKEN cDNA 1810049H20 gene, full insert sequence
gi|12850412|dbj|AK013200.1|

Nucleotide
Mus musculus coiled-coil-helix-coiled-coil-helix domain containing 7, mRNA (cDNA...
Mus musculus coiled-coil-helix-coiled-coil-helix domain containing 7, mRNA (cDNA clone MGC:40881 IMAGE:5370748), complete cds
gi|20987901|gb|BC030366.1|

Nucleotide
Homo sapiens KIAA1143, mRNA (cDNA clone MGC:24015 IMAGE:4102473), complete cds
Homo sapiens KIAA1143, mRNA (cDNA clone MGC:24015 IMAGE:4102473), complete cds
gi|16877033|gb|BC016790.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004314236	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (Aug 18, 2023)	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

SCV004314236

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely benign
(Aug 18, 2023)

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 Invitae, SCV004314236.1

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

#	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: Feb 20, 2024

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