NM_000546.5(TP53):c.917G>A (p.Arg306Gln) AND Squamous cell carcinoma of the head and neck

Clinical significance:Uncertain significance (Last evaluated: May 28, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000989706.1

Allele description [Variation Report for NM_000546.5(TP53):c.917G>A (p.Arg306Gln)]

NM_000546.5(TP53):c.917G>A (p.Arg306Gln)

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.917G>A (p.Arg306Gln)
HGVS:
  • NC_000017.11:g.7673703C>T
  • NG_017013.2:g.18848G>A
  • NM_000546.5:c.917G>A
  • NM_001126112.2:c.917G>A
  • NM_001126113.2:c.917G>A
  • NM_001126114.2:c.917G>A
  • NM_001126115.1:c.521G>A
  • NM_001126116.1:c.521G>A
  • NM_001126117.1:c.521G>A
  • NM_001126118.1:c.800G>A
  • NM_001276695.2:c.800G>A
  • NM_001276696.2:c.800G>A
  • NM_001276697.2:c.440G>A
  • NM_001276698.2:c.440G>A
  • NM_001276699.2:c.440G>A
  • NM_001276760.2:c.800G>A
  • NM_001276761.2:c.800G>A
  • NP_000537.3:p.Arg306Gln
  • NP_001119584.1:p.Arg306Gln
  • NP_001119585.1:p.Arg306Gln
  • NP_001119586.1:p.Arg306Gln
  • NP_001119587.1:p.Arg174Gln
  • NP_001119588.1:p.Arg174Gln
  • NP_001119589.1:p.Arg174Gln
  • NP_001119590.1:p.Arg267Gln
  • NP_001263624.1:p.Arg267Gln
  • NP_001263625.1:p.Arg267Gln
  • NP_001263626.1:p.Arg147Gln
  • NP_001263627.1:p.Arg147Gln
  • NP_001263628.1:p.Arg147Gln
  • NP_001263689.1:p.Arg267Gln
  • NP_001263690.1:p.Arg267Gln
  • LRG_321t1:c.917G>A
  • LRG_321t2:c.917G>A
  • LRG_321t3:c.917G>A
  • LRG_321t4:c.917G>A
  • LRG_321t5:c.521G>A
  • LRG_321t6:c.521G>A
  • LRG_321t7:c.521G>A
  • LRG_321t8:c.800G>A
  • LRG_321:g.18848G>A
  • LRG_321:p.Arg306Gln
  • LRG_321p1:p.Arg306Gln
  • LRG_321p3:p.Arg306Gln
  • LRG_321p4:p.Arg306Gln
  • LRG_321p5:p.Arg174Gln
  • LRG_321p6:p.Arg174Gln
  • LRG_321p7:p.Arg174Gln
  • LRG_321p8:p.Arg267Gln
  • NC_000017.10:g.7577021C>T
  • NM_000546.4:c.917G>A
Protein change:
R147Q
Links:
dbSNP: rs1048095040
NCBI 1000 Genomes Browser:
rs1048095040
Molecular consequence:
  • NM_000546.5:c.917G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126112.2:c.917G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126113.2:c.917G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126114.2:c.917G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126115.1:c.521G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126116.1:c.521G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126117.1:c.521G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126118.1:c.800G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276695.2:c.800G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276696.2:c.800G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276697.2:c.440G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276698.2:c.440G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276699.2:c.440G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276760.2:c.800G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276761.2:c.800G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Squamous cell carcinoma of the head and neck (HNSCC)
Synonyms:
Head and neck squamous cell carcinoma; Carcinoma, squamous cell of head and neck; Squamous cell carcinoma, head and neck, somatic
Identifiers:
MONDO: MONDO:0010150; MeSH: D000077195; MedGen: C1168401; Orphanet: 67037; OMIM: 275355

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001140245Mendelicscriteria provided, single submitter
Uncertain significance
(May 28, 2019)
unknownclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Mendelics, SCV001140245.1

#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: Apr 12, 2021

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