NM_000546.5(TP53):c.836G>A (p.Gly279Glu) AND not specified

Clinical significance:Uncertain significance

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000584418.1

Allele description [Variation Report for NM_000546.5(TP53):c.836G>A (p.Gly279Glu)]

NM_000546.5(TP53):c.836G>A (p.Gly279Glu)

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.836G>A (p.Gly279Glu)
HGVS:
  • NC_000017.11:g.7673784C>T
  • NG_017013.2:g.18767G>A
  • NM_000546.5:c.836G>A
  • NM_001126112.2:c.836G>A
  • NM_001126113.2:c.836G>A
  • NM_001126114.2:c.836G>A
  • NM_001126115.1:c.440G>A
  • NM_001126116.1:c.440G>A
  • NM_001126117.1:c.440G>A
  • NM_001126118.1:c.719G>A
  • NM_001276695.2:c.719G>A
  • NM_001276696.2:c.719G>A
  • NM_001276697.2:c.359G>A
  • NM_001276698.2:c.359G>A
  • NM_001276699.2:c.359G>A
  • NM_001276760.2:c.719G>A
  • NM_001276761.2:c.719G>A
  • NP_000537.3:p.Gly279Glu
  • NP_001119584.1:p.Gly279Glu
  • NP_001119585.1:p.Gly279Glu
  • NP_001119586.1:p.Gly279Glu
  • NP_001119587.1:p.Gly147Glu
  • NP_001119588.1:p.Gly147Glu
  • NP_001119589.1:p.Gly147Glu
  • NP_001119590.1:p.Gly240Glu
  • NP_001263624.1:p.Gly240Glu
  • NP_001263625.1:p.Gly240Glu
  • NP_001263626.1:p.Gly120Glu
  • NP_001263627.1:p.Gly120Glu
  • NP_001263628.1:p.Gly120Glu
  • NP_001263689.1:p.Gly240Glu
  • NP_001263690.1:p.Gly240Glu
  • LRG_321t1:c.836G>A
  • LRG_321t2:c.836G>A
  • LRG_321t3:c.836G>A
  • LRG_321t4:c.836G>A
  • LRG_321t5:c.440G>A
  • LRG_321t6:c.440G>A
  • LRG_321t7:c.440G>A
  • LRG_321t8:c.719G>A
  • LRG_321:g.18767G>A
  • LRG_321:p.Gly279Glu
  • LRG_321p1:p.Gly279Glu
  • LRG_321p3:p.Gly279Glu
  • LRG_321p4:p.Gly279Glu
  • LRG_321p5:p.Gly147Glu
  • LRG_321p6:p.Gly147Glu
  • LRG_321p7:p.Gly147Glu
  • LRG_321p8:p.Gly240Glu
  • NC_000017.10:g.7577102C>T
  • NM_000546.4:c.836G>A
Protein change:
G120E
Links:
dbSNP: rs1064793881
NCBI 1000 Genomes Browser:
rs1064793881
Molecular consequence:
  • NM_000546.5:c.836G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126112.2:c.836G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126113.2:c.836G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126114.2:c.836G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126115.1:c.440G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126116.1:c.440G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126117.1:c.440G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126118.1:c.719G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276695.2:c.719G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276696.2:c.719G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276697.2:c.359G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276698.2:c.359G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276699.2:c.359G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276760.2:c.719G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276761.2:c.719G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000692066Mayo Clinic Laboratories, Mayo Clinicno assertion criteria providedUncertain significanceunknownclinical testing

Summary from all submissions

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

Details of each submission

From Mayo Clinic Laboratories, Mayo Clinic, SCV000692066.1

#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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