NM_032217.4(ANKRD17):c.7731G>A (p.Thr2577=) AND Lip and oral cavity carcinoma

Clinical significance:association

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000495840.1

Allele description [Variation Report for NM_032217.4(ANKRD17):c.7731G>A (p.Thr2577=)]

NM_032217.4(ANKRD17):c.7731G>A (p.Thr2577=)

Gene:
ANKRD17:ankyrin repeat domain 17 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q13.3
Genomic location:
Preferred name:
NM_032217.4(ANKRD17):c.7731G>A (p.Thr2577=)
HGVS:
  • NC_000004.12:g.73076961C>T
  • NM_001286771.2:c.7392G>A
  • NM_015574.1:c.7728G>A
  • NM_032217.4:c.7731G>A
  • NM_198889.2:c.6978G>A
  • NP_001273700.1:p.Thr2464=
  • NP_056389.1:p.Thr2576=
  • NP_115593.3:p.Thr2577=
  • NP_942592.1:p.Thr2326=
  • NC_000004.11:g.73942678C>T
  • XM_017008011.1:c.7389G>A
Links:
dbSNP: rs2306058
NCBI 1000 Genomes Browser:
rs2306058
Molecular consequence:
  • NM_001286771.2:c.7392G>A - synonymous variant - [Sequence Ontology: SO:0001819]
Functional consequence:
no known functional consequence

Condition(s)

Name:
Lip and oral cavity carcinoma
Identifiers:
MedGen: C0220641

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000579510Department of Biological Science,Sunandan Divatia School of Science, NMIMS Universitycriteria provided, single submitter
associationgermline, not applicablecase-control

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot applicablenot applicablenot providednot providednot providednot providednot providedcase-control
Indiangermlineyes172not providednot providednot providednot providedcase-control

Citations

PubMed

Multiple single nucleotide polymorphism analysis and association of specific genotypes in FHIT, SAMD4A, and ANKRD17 in Indian patients with oral cancer.

D'Souza W, Pradhan S, Saranath D.

Head Neck. 2017 Aug;39(8):1586-1595. doi: 10.1002/hed.24798. Epub 2017 Jun 5.

PubMed [citation]
PMID:
28580594

Details of each submission

From Department of Biological Science,Sunandan Divatia School of Science, NMIMS University, SCV000579510.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcase-control PubMed (1)
2Indian172not providednot providedcase-control PubMed (1)

Description

A significant association of rs2306058 (ANKRD17) CT (odds ratio [OR] 0.72; 95% confidence interval [CI] 0.56-0.93) indicated decreased risk to oral cancer.

Description

A significant association of rs2306058 (ANKRD17) CT (odds ratio [OR] 0.72; 95% confidence interval [CI] 0.56-0.93) indicated decreased risk to oral cancer.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not applicablenot applicablenot providedBloodnot providednot providednot providednot providednot provided
2germlineyesnot providednot providednot provided172not providednot providednot provided

Last Updated: Mar 30, 2019

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