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NM_001304359.2(MUC5AC):c.7411G>C (p.Ala2471Pro) AND Squamous cell carcinoma

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 6, 2022
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:
RCV003129698.2

Allele description [Variation Report for NM_001304359.2(MUC5AC):c.7411G>C (p.Ala2471Pro)]

NM_001304359.2(MUC5AC):c.7411G>C (p.Ala2471Pro)

Gene:
MUC5AC:mucin 5AC, oligomeric mucus/gel-forming [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.5
Genomic location:
Chr11: 1185556 (on Assembly GRCh38)
Preferred name:
NM_001304359.2(MUC5AC):c.7411G>C (p.Ala2471Pro)
HGVS:
  • NC_000011.10:g.1185556G>C
  • NM_001304359.2:c.7411G>CMANE SELECT
  • NP_001291288.1:p.Ala2471Pro
Protein change:
A2471P
Molecular consequence:
  • NM_001304359.2:c.7411G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Squamous cell carcinoma
Synonyms:
Epidermoid carcinoma
Identifiers:
MONDO: MONDO:0005096; MeSH: D002294; MedGen: C0007137; Human Phenotype Ontology: HP:0002860

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003806399Liquid Biopsy and Cancer Interception Group, Pfizer-University of Granada-Junta de Andalucía Centre for Genomics and Oncological Research
criteria provided, single submitter

(AMP Guidelines, 2017)		Uncertain significance
(Jun 6, 2022) 		somaticresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticyes1not providednot provided1not providedresearch

Citations

PubMed

Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer: A Joint Consensus Recommendation of the Association for Molecular Pathology, American Society of Clinical Oncology, and College of American Pathologists.

Li MM, Datto M, Duncavage EJ, Kulkarni S, Lindeman NI, Roy S, Tsimberidou AM, Vnencak-Jones CL, Wolff DJ, Younes A, Nikiforova MN.

J Mol Diagn. 2017 Jan;19(1):4-23. doi: 10.1016/j.jmoldx.2016.10.002. Review.

PubMed [citation]
PMID:
27993330
PMCID:
PMC5707196

Details of each submission

From Liquid Biopsy and Cancer Interception Group, Pfizer-University of Granada-Junta de Andalucía Centre for Genomics and Oncological Research, SCV003806399.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyes1not providednot provided1not providednot providednot provided

Last Updated: Jun 23, 2024