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NM_000546.6(TP53):c.1096T>G (p.Ser366Ala) AND Squamous cell carcinoma of the head and neck

Germline classification:
Benign (1 submission)
Last evaluated:
May 28, 2019
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:
RCV000989697.2

Allele description [Variation Report for NM_000546.6(TP53):c.1096T>G (p.Ser366Ala)]

NM_000546.6(TP53):c.1096T>G (p.Ser366Ala)

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.1096T>G (p.Ser366Ala)
Other names:
p.S366A:TCC>GCC
HGVS:
  • NC_000017.11:g.7670613A>C
  • NG_017013.2:g.21938T>G
  • NM_000546.6:c.1096T>GMANE SELECT
  • NM_001126112.3:c.1096T>G
  • NM_001126113.3:c.*115T>G
  • NM_001126114.3:c.*203T>G
  • NM_001126115.2:c.700T>G
  • NM_001126116.2:c.*203T>G
  • NM_001126117.2:c.*115T>G
  • NM_001126118.2:c.979T>G
  • NM_001276695.3:c.*115T>G
  • NM_001276696.3:c.*203T>G
  • NM_001276697.3:c.619T>G
  • NM_001276698.3:c.*203T>G
  • NM_001276699.3:c.*115T>G
  • NM_001276760.3:c.979T>G
  • NM_001276761.3:c.979T>G
  • NP_000537.3:p.Ser366Ala
  • NP_000537.3:p.Ser366Ala
  • NP_001119584.1:p.Ser366Ala
  • NP_001119587.1:p.Ser234Ala
  • NP_001119590.1:p.Ser327Ala
  • NP_001263626.1:p.Ser207Ala
  • NP_001263689.1:p.Ser327Ala
  • NP_001263690.1:p.Ser327Ala
  • LRG_321t1:c.1096T>G
  • LRG_321:g.21938T>G
  • LRG_321p1:p.Ser366Ala
  • NC_000017.10:g.7573931A>C
  • NM_000546.4:c.1096T>G
  • NM_000546.5(TP53):c.1096T>G
  • NM_000546.5:c.1096T>G
  • P04637:p.Ser366Ala
  • p.S366A
Protein change:
S207A
Links:
UniProtKB: P04637#VAR_022317; dbSNP: rs17881470
NCBI 1000 Genomes Browser:
rs17881470
Molecular consequence:
  • NM_001126113.3:c.*115T>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001126114.3:c.*203T>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001126116.2:c.*203T>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001126117.2:c.*115T>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001276695.3:c.*115T>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001276696.3:c.*203T>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001276698.3:c.*203T>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001276699.3:c.*115T>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_000546.6:c.1096T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126112.3:c.1096T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126115.2:c.700T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126118.2:c.979T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276697.3:c.619T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276760.3:c.979T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276761.3:c.979T>G - 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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001140236Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2017)		Benign
(May 28, 2019) 		unknownclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Mendelics, SCV001140236.1

#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: Mar 16, 2024