NM_017777.4(MKS1):c.1450_1453dup (p.Thr485fs) AND Meckel syndrome, type 1

Germline classification:: Pathogenic/Likely pathogenic (3 submissions)
Last evaluated:: Sep 16, 2020
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:: RCV000050030.4

Allele description [Variation Report for NM_017777.4(MKS1):c.1450_1453dup (p.Thr485fs)]

NM_017777.4(MKS1):c.1450_1453dup (p.Thr485fs)

Gene:

MKS1:MKS transition zone complex subunit 1 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

17q22

Genomic location:

Preferred name:

NM_017777.4(MKS1):c.1450_1453dup (p.Thr485fs)

HGVS:

NC_000017.11:g.58206504_58206507dup
NG_013020.1:g.18777_18780dup
NG_013032.1:g.18101_18104dup
NM_001321268.2:c.841_844dup
NM_001321269.2:c.1408-125_1408-122dup
NM_001330397.2:c.1274-125_1274-122dup
NM_017777.4:c.1450_1453dupMANE SELECT
NP_001308197.1:p.Thr282fs
NP_060247.2:p.Thr485fs
NP_060247.2:p.Thr485fs
LRG_687t1:c.1450_1453dup
LRG_687:g.18101_18104dup
LRG_687p1:p.Thr485fs
NC_000017.10:g.56283862_56283863insTGCC
NC_000017.10:g.56283865_56283868dup
NM_017777.3:c.1450_1453dup
NM_017777.3:c.1450_1453dupGGCA
NM_017777.4:c.1450_1453dup

Protein change:

T282fs

Links:

dbSNP: rs386834044

NCBI 1000 Genomes Browser:

rs386834044

Molecular consequence:

NM_001321268.2:c.841_844dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_017777.4:c.1450_1453dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001321269.2:c.1408-125_1408-122dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001330397.2:c.1274-125_1274-122dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Meckel syndrome, type 1
Synonyms:: MECKEL-GRUBER SYNDROME, TYPE 1
Identifiers:: MONDO: MONDO:0009571; MedGen: C3714506; Orphanet: 564; OMIM: 249000

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000082439	Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)	no assertion criteria provided	probable-pathogenic	unknown	not provided
SCV001132431	Counsyl	no assertion criteria provided	Likely pathogenic (Dec 5, 2016)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001455366	Natera, Inc.	no assertion criteria provided	Pathogenic (Sep 16, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000082439

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

no assertion criteria provided

probable-pathogenic

unknown

not provided

SCV001132431

Counsyl

no assertion criteria provided

Likely pathogenic
(Dec 5, 2016)

unknown

clinical testing

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

SCV001455366

Natera, Inc.

no assertion criteria provided

Pathogenic
(Sep 16, 2020)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	not provided	not provided	not provided	not provided	not provided	1	not provided	literature only

Citations

PubMed

Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online.

Khaddour R, Smith U, Baala L, Martinovic J, Clavering D, Shaffiq R, Ozilou C, Cullinane A, Kyttälä M, Shalev S, Audollent S, d'Humières C, Kadhom N, Esculpavit C, Viot G, Boone C, Oien C, Encha-Razavi F, Batman PA, Bennett CP, Woods CG, Roume J, et al.

Hum Mutat. 2007 May;28(5):523-4.

PubMed [citation]

PMID:: 17397051

Details of each submission

From Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM), SCV000082439.1

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

Description

Converted during submission to Likely pathogenic.

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

From Counsyl, SCV001132431.1

#	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Natera, Inc., SCV001455366.1

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

#	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		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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