NM_025114.4(CEP290):c.1219_1220del (p.Met407fs) AND Meckel syndrome, type 4

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Jan 4, 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:: RCV000050142.10

Allele description

NM_025114.4(CEP290):c.1219_1220del (p.Met407fs)

Gene:

CEP290:centrosomal protein 290 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

12q21.32

Genomic location:

Preferred name:

NM_025114.4(CEP290):c.1219_1220del (p.Met407fs)

HGVS:

NC_000012.12:g.88121136AT[1]
NG_008417.2:g.26078AT[1]
NM_025114.4:c.1219_1220delMANE SELECT
NP_079390.3:p.Met407fs
LRG_694t1:c.1219_1220del
LRG_694:g.26078AT[1]
LRG_694p1:p.Met407fs
NC_000012.11:g.88514913AT[1]
NC_000012.11:g.88514913_88514914del
NG_008417.1:g.26078AT[1]
NM_025114.3:c.1219_1220delAT
NM_025114.4:c.1219_1220del

Protein change:

M407fs

Links:

dbSNP: rs386834148

NCBI 1000 Genomes Browser:

rs386834148

Molecular consequence:

NM_025114.4:c.1219_1220del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Meckel syndrome, type 4 (MKS4)
Synonyms:: MECKEL-GRUBER SYNDROME, TYPE 4
Identifiers:: MONDO: MONDO:0012626; MedGen: C1970161; Orphanet: 564; OMIM: 611134

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000082552	Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)	no assertion criteria provided	probable-pathogenic	not provided	not provided	PubMed (2) [See all records that cite these PMIDs] 17564974, 19466712
SCV000594073	Genetic Services Laboratory, University of Chicago	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jan 4, 2016)	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

SCV000082552

Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)

no assertion criteria provided

probable-pathogenic

not provided

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

SCV000594073

Genetic Services Laboratory, University of Chicago

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jan 4, 2016)

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	not provided	not provided	not provided	not provided	not provided	1	not provided	literature only
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome.

Baala L, Audollent S, Martinovic J, Ozilou C, Babron MC, Sivanandamoorthy S, Saunier S, Salomon R, Gonzales M, Rattenberry E, Esculpavit C, Toutain A, Moraine C, Parent P, Marcorelles P, Dauge MC, Roume J, Le Merrer M, Meiner V, Meir K, Menez F, Beaufrère AM, et al.

Am J Hum Genet. 2007 Jul;81(1):170-9. Epub 2007 Jun 4.

PubMed [citation]

PMID:: 17564974
PMCID:: PMC1950929

Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?

Tallila J, Salonen R, Kohlschmidt N, Peltonen L, Kestilä M.

Hum Mutat. 2009 Aug;30(8):E813-30. doi: 10.1002/humu.21057.

PubMed [citation]

PMID:: 19466712
PMCID:: PMC2718326

See all PubMed Citations (3)

Details of each submission

From Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM), SCV000082552.1

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

Description

Converted during submission to Likely pathogenic.

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

From Genetic Services Laboratory, University of Chicago, SCV000594073.1

#	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: Mar 5, 2024

ClinVar

Relating variation to medicine