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NM_000546.6(TP53):c.704A>G (p.Asn235Ser) 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:
RCV000989714.9

Allele description [Variation Report for NM_000546.6(TP53):c.704A>G (p.Asn235Ser)]

NM_000546.6(TP53):c.704A>G (p.Asn235Ser)

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.704A>G (p.Asn235Ser)
Other names:
p.N235S:AAC>AGC
HGVS:
  • NC_000017.11:g.7674259T>C
  • NG_017013.2:g.18292A>G
  • NM_000546.6:c.704A>GMANE SELECT
  • NM_001126112.3:c.704A>G
  • NM_001126113.3:c.704A>G
  • NM_001126114.3:c.704A>G
  • NM_001126115.2:c.308A>G
  • NM_001126116.2:c.308A>G
  • NM_001126117.2:c.308A>G
  • NM_001126118.2:c.587A>G
  • NM_001276695.3:c.587A>G
  • NM_001276696.3:c.587A>G
  • NM_001276697.3:c.227A>G
  • NM_001276698.3:c.227A>G
  • NM_001276699.3:c.227A>G
  • NM_001276760.3:c.587A>G
  • NM_001276761.3:c.587A>G
  • NP_000537.3:p.Asn235Ser
  • NP_000537.3:p.Asn235Ser
  • NP_001119584.1:p.Asn235Ser
  • NP_001119585.1:p.Asn235Ser
  • NP_001119586.1:p.Asn235Ser
  • NP_001119587.1:p.Asn103Ser
  • NP_001119588.1:p.Asn103Ser
  • NP_001119589.1:p.Asn103Ser
  • NP_001119590.1:p.Asn196Ser
  • NP_001263624.1:p.Asn196Ser
  • NP_001263625.1:p.Asn196Ser
  • NP_001263626.1:p.Asn76Ser
  • NP_001263627.1:p.Asn76Ser
  • NP_001263628.1:p.Asn76Ser
  • NP_001263689.1:p.Asn196Ser
  • NP_001263690.1:p.Asn196Ser
  • LRG_321t1:c.704A>G
  • LRG_321:g.18292A>G
  • LRG_321p1:p.Asn235Ser
  • NC_000017.10:g.7577577T>C
  • NM_000546.4:c.704A>G
  • NM_000546.5(TP53):c.704A>G
  • NM_000546.5:c.704A>G
  • P04637:p.Asn235Ser
  • p.N235S
Protein change:
N103S
Links:
UniProtKB: P04637#VAR_045186; dbSNP: rs144340710
NCBI 1000 Genomes Browser:
rs144340710
Molecular consequence:
  • NM_000546.6:c.704A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126112.3:c.704A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126113.3:c.704A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126114.3:c.704A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126115.2:c.308A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126116.2:c.308A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126117.2:c.308A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126118.2:c.587A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276695.3:c.587A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276696.3:c.587A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276697.3:c.227A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276698.3:c.227A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276699.3:c.227A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276760.3:c.587A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276761.3:c.587A>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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001140256Mendelics
criteria provided, single submitter

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

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Mendelics, SCV001140256.1

#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: Nov 10, 2024