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NC_012920.1(MT-CYB):m.15148G>A AND Ovarian neoplasm

Germline classification:
Likely benign (2 submissions)
Last evaluated:
Aug 29, 2023
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:
RCV000133453.3

Allele description [Variation Report for NC_012920.1(MT-CYB):m.15148G>A]

NC_012920.1(MT-CYB):m.15148G>A

Gene:
MT-CYB:mitochondrially encoded cytochrome b [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Genomic location:
Preferred name:
NC_012920.1(MT-CYB):m.15148G>A
HGVS:
NC_012920.1:m.15148G>A
Links:
dbSNP: rs527236206
NCBI 1000 Genomes Browser:
rs527236206

Condition(s)

Name:
Ovarian neoplasm
Synonyms:
Neoplasm of ovary; Ovarian tumor; Ovarian Neoplasms
Identifiers:
MONDO: MONDO:0021068; MeSH: D010051; MedGen: C0919267; Human Phenotype Ontology: HP:0100615

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000188463Department of Zoology Govt. MVM College
no assertion criteria provided
probable-pathogenicnot providednot provided

SCV004030453Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely benign
(Aug 29, 2023) 		unknowncuration

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

Description

KM273783;KM276994

SCV000188463

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot provided2not providedliterature only
not providedunknownunknownnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Department of Zoology Govt. MVM College, SCV000188463.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot providednot provided

Description

Converted during submission to Likely pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot provided2not providednot providednot providednot providednot providednot provided

From Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel, SCV004030453.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (1)

Description

Clinical significance based on ACMG v2.0

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 15, 2024