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NM_001401501.2(MUC16):c.9849A>G (p.Glu3283=) AND Ovarian cancer

Germline classification:
Likely pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV004011246.1

Allele description [Variation Report for NM_001401501.2(MUC16):c.9849A>G (p.Glu3283=)]

NM_001401501.2(MUC16):c.9849A>G (p.Glu3283=)

Gene:
MUC16:mucin 16, cell surface associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.2
Genomic location:
Preferred name:
NM_001401501.2(MUC16):c.9849A>G (p.Glu3283=)
HGVS:
  • NC_000019.10:g.8967041T>C
  • NG_055257.1:g.48350A>G
  • NM_001401501.2:c.9849A>GMANE SELECT
  • NM_001414686.1:c.10275A>G
  • NM_001414687.1:c.9729A>G
  • NM_024690.2:c.9729A>G
  • NP_001388430.1:p.Glu3283=
  • NP_001401615.1:p.Glu3425=
  • NP_001401616.1:p.Glu3243=
  • NP_078966.2:p.Glu3243=
  • NC_000019.9:g.9077717T>C
Molecular consequence:
  • NM_001401501.2:c.9849A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001414686.1:c.10275A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001414687.1:c.9729A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_024690.2:c.9729A>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Ovarian cancer
Synonyms:
OVARIAN CANCER, SOMATIC
Identifiers:
MONDO: MONDO:0008170; MedGen: C1140680; OMIM: 167000

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV004046770Key Laboratory of Carcinogenesis and Cancer Invasion, Central South University
no assertion criteria provided
Likely pathogenicsomaticclinical testing

Summary from all submissions

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

Details of each submission

From Key Laboratory of Carcinogenesis and Cancer Invasion, Central South University, SCV004046770.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 17, 2024