NM_003504.5(CDC45):c.333C>T (p.Asn111=) AND Meier-Gorlin syndrome 7

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Jun 29, 2020
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:: RCV000239531.4

Allele description [Variation Report for NM_003504.5(CDC45):c.333C>T (p.Asn111=)]

NM_003504.5(CDC45):c.333C>T (p.Asn111=)

Gene:

CDC45:cell division cycle 45 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q11.21

Genomic location:

Preferred name:

NM_003504.5(CDC45):c.333C>T (p.Asn111=)

Other names:

N111N

HGVS:

NC_000022.11:g.19482818C>T
NG_052958.1:g.7993C>T
NM_001178010.2:c.333C>T
NM_001178011.2:c.205-1044C>T
NM_001369291.1:c.297C>T
NM_003504.5:c.333C>TMANE SELECT
NP_001171481.1:p.Asn111=
NP_001356220.1:p.Asn99=
NP_003495.1:p.Asn111=
NP_003495.1:p.Asn111=
NC_000022.10:g.19470341C>T
NM_003504.4:c.333C>T
NR_161281.1:n.382C>T

Protein change:

ASN111ASN

Links:

OMIM: 603465.0007; dbSNP: rs748749078

NCBI 1000 Genomes Browser:

rs748749078

Molecular consequence:

NM_001178011.2:c.205-1044C>T - intron variant - [Sequence Ontology: SO:0001627]
NR_161281.1:n.382C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_001178010.2:c.333C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001369291.1:c.297C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_003504.5:c.333C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:: Meier-Gorlin syndrome 7
Identifiers:: MONDO: MONDO:0014894; MedGen: C4310738; Orphanet: 2554; OMIM: 617063

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000297901	OMIM	no assertion criteria provided	Pathogenic (Oct 20, 2016)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV002059354	Centogene AG - the Rare Disease Company	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jun 29, 2020)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000297901

OMIM

no assertion criteria provided

Pathogenic
(Oct 20, 2016)

germline

literature only

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

SCV002059354

Centogene AG - the Rare Disease Company

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jun 29, 2020)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis.

Fenwick AL, Kliszczak M, Cooper F, Murray J, Sanchez-Pulido L, Twigg SR, Goriely A, McGowan SJ, Miller KA, Taylor IB, Logan C; WGS500 Consortium., Bozdogan S, Danda S, Dixon J, Elsayed SM, Elsobky E, Gardham A, Hoffer MJ, Koopmans M, McDonald-McGinn DM, Santen GW, et al.

Am J Hum Genet. 2016 Jul 7;99(1):125-38. doi: 10.1016/j.ajhg.2016.05.019. Epub 2016 Jun 30.

PubMed [citation]

PMID:: 27374770
PMCID:: PMC5005452

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 OMIM, SCV000297901.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

For discussion of the c.333C-T transition (c.333C-T, NM_003504.4) in the CDC45 gene, resulting in an asn111-to-asn (N111N) substitution, that was found in compound heterozygous state in a patient with Meier-Gorlin syndrome-7 (MGORS7; 617063) by Fenwick et al. (2016), see 603465.0006.

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

From Centogene AG - the Rare Disease Company, SCV002059354.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

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

Last Updated: Apr 23, 2022

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