NC_012920.1(MT-CYB):m.15326A>G AND Familial cancer of breast

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:: RCV000128807.3

Allele description [Variation Report for NC_012920.1(MT-CYB):m.15326A>G]

NC_012920.1(MT-CYB):m.15326A>G

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.15326A>G

HGVS:

NC_012920.1:m.15326A>G

Links:

dbSNP: rs2853508

NCBI 1000 Genomes Browser:

rs2853508

Condition(s)

Name:: Familial cancer of breast
Synonyms:: Breast cancer, familial; Hereditary breast cancer
Identifiers:: MONDO: MONDO:0016419; MedGen: C0346153; OMIM: 114480

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000172465	Department of Zoology Govt. MVM College	no assertion criteria provided	probable-pathogenic	unknown	not provided

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000172465

Department of Zoology Govt. MVM College

no assertion criteria provided

probable-pathogenic

unknown

not provided

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	not provided	not provided	not provided	not provided	not provided	2	not provided	literature only

Details of each submission

From Department of Zoology Govt. MVM College, SCV000172465.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	not provided	not provided

Description

Converted during submission to Likely pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	not provided	2	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 8, 2024

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