Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_000546.5(TP53):c.18A>C (p.Ser6=)

Help
Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
9 (Most recent: Mar 31, 2021)
Last evaluated:
Dec 1, 2020
Accession:
VCV000182940.9
Variation ID:
182940
Description:
single nucleotide variant
Help

NM_000546.5(TP53):c.18A>C (p.Ser6=)

Allele ID
181034
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17p13.1
Genomic location
17: 7676577 (GRCh38) GRCh38 UCSC
17: 7579895 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.7579895T>G
NC_000017.11:g.7676577T>G
NM_000546.5:c.18A>C NP_000537.3:p.Ser6= synonymous
... more HGVS
Protein change
-
Other names
p.S6S:TCA>TCC
Canonical SPDI
NC_000017.11:7676576:T:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00003
Links
ClinGen: CA000064
dbSNP: rs573130482
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 2 criteria provided, multiple submitters, no conflicts May 1, 2017 RCV000161041.5
Benign/Likely benign 4 criteria provided, multiple submitters, no conflicts Aug 21, 2020 RCV000213043.5
Likely benign 1 criteria provided, single submitter May 17, 2017 RCV000589460.4
Likely benign 1 criteria provided, single submitter Dec 1, 2020 RCV001079935.2
Likely benign 1 no assertion criteria provided - RCV001357147.1
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TP53 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
2189 2252

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(May 17, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV000602264.1
Submitted: (Aug 01, 2017)
Evidence details
Benign
(Sep 08, 2014)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000211771.10
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Likely benign
(May 17, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV000888662.1
Submitted: (Aug 31, 2018)
Evidence details
Likely benign
(Aug 21, 2020)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000697434.3
Submitted: (Sep 09, 2020)
Evidence details
Publications
PubMed (1)
Likely benign
(Oct 20, 2014)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000214591.5
Submitted: (Nov 30, 2020)
Evidence details
Comment:
This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, … (more)
Likely benign
(May 01, 2017)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color Health, Inc
Accession: SCV000686724.1
Submitted: (Oct 26, 2017)
Evidence details
Likely benign
(Dec 01, 2020)
criteria provided, single submitter
Method: clinical testing
Li-Fraumeni syndrome
Allele origin: germline
Invitae
Accession: SCV000253307.8
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: unknown
Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV000692103.1
Submitted: (Oct 31, 2017)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
Malignant tumor of breast
Allele origin: unknown
Department of Pathology and Laboratory Medicine,Sinai Health System
Additional submitter:
Franklin by Genoox
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV001552516.1
Submitted: (Mar 31, 2021)
Evidence details
Comment:
The TP53 p.Ser6= variant was not identified in the literature nor was it identified in the COGR, LOVD 3.0, UMD-LSDB, or UMD TP53 Mutation, databases. … (more)

Functional evidence

Help
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

Help
Title Author Journal Year Link
Germline TP53 variants and susceptibility to osteosarcoma. Mirabello L Journal of the National Cancer Institute 2015 PMID: 25896519

Text-mined citations for rs573130482...

Help
These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Aug 11, 2021