NM_003981.4(PRC1):c.1350+35C>G AND Familial cancer of breast

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 1, 2014
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:: RCV000162265.3

Allele description [Variation Report for NM_003981.4(PRC1):c.1350+35C>G]

NM_003981.4(PRC1):c.1350+35C>G

Genes:

PRC1-AS1:PRC1 antisense RNA 1 [Gene - HGNC]
PRC1:protein regulator of cytokinesis 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q26.1

Genomic location:

Preferred name:

NM_003981.4(PRC1):c.1350+35C>G

HGVS:

NC_000015.10:g.90974550G>C
NG_050647.1:g.25102C>G
NM_001267580.2:c.1227+35C>G
NM_003981.4:c.1350+35C>GMANE SELECT
NM_199413.3:c.1350+35C>G
NC_000015.9:g.91517780G>C

Links:

dbSNP: rs12898311

NCBI 1000 Genomes Browser:

rs12898311

Molecular consequence:

NM_001267580.2:c.1227+35C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_003981.4:c.1350+35C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_199413.3:c.1350+35C>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Familial cancer of breast
Synonyms:: Breast cancer, familial
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
SCV000167266	Research Lab, National Institute of Public Health - Role of PRC1 genetic variability in breast cancer	no assertion criteria provided	Uncertain significance (Feb 1, 2014)	inherited	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000167266

Research Lab, National Institute of Public Health - Role of PRC1 genetic variability in breast cancer

no assertion criteria provided

Uncertain significance
(Feb 1, 2014)

inherited

research

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Caucasian	inherited	yes	42	not provided	not provided	not provided	not provided	research

Details of each submission

From Research Lab, National Institute of Public Health - Role of PRC1 genetic variability in breast cancer, SCV000167266.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Caucasian	42	not provided	not provided	research	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	inherited	yes	not provided	not provided	not provided		42	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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