NM_181741.4(ORC4):c.1A>G (p.Met1Val) AND Meier-Gorlin syndrome 2

Germline classification:: Pathogenic (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:: RCV000490273.1

Allele description [Variation Report for NM_181741.4(ORC4):c.1A>G (p.Met1Val)]

NM_181741.4(ORC4):c.1A>G (p.Met1Val)

Gene:

ORC4:origin recognition complex subunit 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q23.1

Genomic location:

Preferred name:

NM_181741.4(ORC4):c.1A>G (p.Met1Val)

HGVS:

NC_000002.12:g.147975958T>C
NG_028252.1:g.50647A>G
NM_001190879.3:c.1A>G
NM_001190881.3:c.-27-17092A>G
NM_001190882.3:c.-165-2434A>G
NM_001374270.1:c.1A>G
NM_001374272.1:c.-317A>G
NM_002552.5:c.1A>G
NM_181741.4:c.1A>GMANE SELECT
NM_181742.4:c.1A>G
NP_001177808.1:p.Met1Val
NP_001177808.1:p.Met1Val
NP_001361199.1:p.Met1Val
NP_002543.2:p.Met1Val
NP_859525.1:p.Met1Val
NP_859526.1:p.Met1Val
NC_000002.11:g.148733527T>C
NM_001190879.2:c.1A>G

Protein change:

M1V

Links:

dbSNP: rs1085307083

NCBI 1000 Genomes Browser:

rs1085307083

Molecular consequence:

NM_001374272.1:c.-317A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001190879.3:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_001374270.1:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_002552.5:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_181741.4:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_181742.4:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_001190881.3:c.-27-17092A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001190882.3:c.-165-2434A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001190879.3:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001374270.1:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_002552.5:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_181741.4:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_181742.4:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Meier-Gorlin syndrome 2 (MGORS2)
Identifiers:: MONDO: MONDO:0013428; MedGen: C3151097; Orphanet: 2554; OMIM: 613800

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000267429	Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Mar 18, 2016)	germline	reference population	PubMed (3) [See all records that cite these PMIDs] 21358632, 21358631, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000267429

Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Mar 18, 2016)

germline

reference population

PubMed (3)
[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

Mutations in the pre-replication complex cause Meier-Gorlin syndrome.

Bicknell LS, Bongers EM, Leitch A, Brown S, Schoots J, Harley ME, Aftimos S, Al-Aama JY, Bober M, Brown PA, van Bokhoven H, Dean J, Edrees AY, Feingold M, Fryer A, Hoefsloot LH, Kau N, Knoers NV, Mackenzie J, Opitz JM, Sarda P, Ross A, et al.

Nat Genet. 2011 Feb 27;43(4):356-9. doi: 10.1038/ng.775.

PubMed [citation]

PMID:: 21358632
PMCID:: PMC3068194

Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome.

Guernsey DL, Matsuoka M, Jiang H, Evans S, Macgillivray C, Nightingale M, Perry S, Ferguson M, LeBlanc M, Paquette J, Patry L, Rideout AL, Thomas A, Orr A, McMaster CR, Michaud JL, Deal C, Langlois S, Superneau DW, Parkash S, Ludman M, Skidmore DL, et al.

Nat Genet. 2011 Feb 27;43(4):360-4. doi: 10.1038/ng.777.

PubMed [citation]

PMID:: 21358631

See all PubMed Citations (3)

Details of each submission

From Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center, SCV000267429.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	East Asian	1	not provided	not provided	reference population	PubMed (3)

#	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: Apr 7, 2025

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