NM_000546.5(TP53):c.255T>C (p.Pro85=) AND Li-Fraumeni syndrome 1

Clinical significance:Likely benign (Last evaluated: Mar 8, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000410322.1

Allele description [Variation Report for NM_000546.5(TP53):c.255T>C (p.Pro85=)]

NM_000546.5(TP53):c.255T>C (p.Pro85=)

Gene:
TP53:tumor protein p53 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p13.1
Genomic location:
Preferred name:
NM_000546.5(TP53):c.255T>C (p.Pro85=)
HGVS:
  • NC_000017.11:g.7676114A>G
  • NG_017013.2:g.16437T>C
  • NM_000546.5:c.255T>C
  • NM_001126112.2:c.255T>C
  • NM_001126113.2:c.255T>C
  • NM_001126114.2:c.255T>C
  • NM_001126118.1:c.138T>C
  • NM_001276695.2:c.138T>C
  • NM_001276696.2:c.138T>C
  • NM_001276760.2:c.138T>C
  • NM_001276761.2:c.138T>C
  • NP_000537.3:p.Pro85=
  • NP_001119584.1:p.Pro85=
  • NP_001119585.1:p.Pro85=
  • NP_001119586.1:p.Pro85=
  • NP_001119590.1:p.Pro46=
  • NP_001263624.1:p.Pro46=
  • NP_001263625.1:p.Pro46=
  • NP_001263689.1:p.Pro46=
  • NP_001263690.1:p.Pro46=
  • LRG_321t1:c.255T>C
  • LRG_321t2:c.255T>C
  • LRG_321t3:c.255T>C
  • LRG_321t4:c.255T>C
  • LRG_321t8:c.138T>C
  • LRG_321:g.16437T>C
  • LRG_321:p.Pro85=
  • LRG_321p1:p.Pro85=
  • LRG_321p3:p.Pro85=
  • LRG_321p4:p.Pro85=
  • LRG_321p8:p.Pro46=
  • NC_000017.10:g.7579432A>G
  • NM_000546.4:c.255T>C
  • p.P85P
  • p.Pro85Pro
Links:
dbSNP: rs775515332
NCBI 1000 Genomes Browser:
rs775515332
Molecular consequence:
  • NM_000546.5:c.255T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001126112.2:c.255T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001126113.2:c.255T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001126114.2:c.255T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001126118.1:c.138T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001276695.2:c.138T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001276696.2:c.138T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001276760.2:c.138T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001276761.2:c.138T>C - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Li-Fraumeni syndrome 1 (LFS)
Synonyms:
Li-Fraumeni syndrome 3
Identifiers:
Gene: 553989; MONDO: MONDO:0007903; MedGen: C1835398; Orphanet: 524; OMIM: 151623

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000488359Counsylcriteria provided, single submitter
Likely benign
(Mar 8, 2016)
unknownclinical testing

Counsyl Autosomal Dominant Disease Classification criteria (2015)

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod

Details of each submission

From Counsyl, SCV000488359.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 10, 2021

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