NM_018127.7(ELAC2):c.1698+1G>C AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 18, 2016
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:: RCV000490332.1

Allele description [Variation Report for NM_018127.7(ELAC2):c.1698+1G>C]

NM_018127.7(ELAC2):c.1698+1G>C

Gene:

ELAC2:elaC ribonuclease Z 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p12

Genomic location:

Preferred name:

NM_018127.7(ELAC2):c.1698+1G>C

HGVS:

NC_000017.11:g.12995939C>G
NG_015808.1:g.27126G>C
NM_001165962.2:c.1578+1G>C
NM_018127.7:c.1698+1G>CMANE SELECT
NM_173717.2:c.1695+1G>C
NC_000017.10:g.12899256C>G
NM_001165962.1:c.1578+1G>C

Links:

dbSNP: rs1085307065

NCBI 1000 Genomes Browser:

rs1085307065

Molecular consequence:

NM_001165962.2:c.1578+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_018127.7:c.1698+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_173717.2:c.1695+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:: Prostate cancer, hereditary, 2 (HPC2)
Identifiers:: MONDO: MONDO:0013872; MedGen: C3539120; Orphanet: 1331; OMIM: 614731

Name:: Combined oxidative phosphorylation defect type 17
Synonyms:: Combined oxidative phosphorylation deficiency 17
Identifiers:: MONDO: MONDO:0014190; MedGen: C3809526; Orphanet: 369913; OMIM: 615440

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000267301	Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Mar 18, 2016)	germline	reference population	PubMed (2) [See all records that cite these PMIDs] 11254448, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000267301

Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Mar 18, 2016)

germline

reference population

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
East Asian	germline	unknown	1	not provided	not provided	not provided	not provided	reference population

Citations

PubMed

Evaluation of linkage and association of HPC2/ELAC2 in patients with familial or sporadic prostate cancer.

Xu J, Zheng SL, Carpten JD, Nupponen NN, Robbins CM, Mestre J, Moses TY, Faith DA, Kelly BD, Isaacs SD, Wiley KE, Ewing CM, Bujnovszky P, Chang B, Bailey-Wilson J, Bleecker ER, Walsh PC, Trent JM, Meyers DA, Isaacs WB.

Am J Hum Genet. 2001 Apr;68(4):901-11. Epub 2001 Mar 14.

PubMed [citation]

PMID:: 11254448
PMCID:: PMC1275644

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 Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center, SCV000267301.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	East Asian	1	not provided	not provided	reference population	PubMed (2)

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

Last Updated: Jun 10, 2023

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