NM_017777.4(MKS1):c.811del (p.His271fs) AND Meckel syndrome, type 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 2, 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:: RCV001831396.1

Allele description [Variation Report for NM_017777.4(MKS1):c.811del (p.His271fs)]

NM_017777.4(MKS1):c.811del (p.His271fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

17q22

Genomic location:

Preferred name:

NM_017777.4(MKS1):c.811del (p.His271fs)

HGVS:

NC_000017.11:g.58213034del
NG_013032.1:g.11577del
NM_001321268.2:c.202del
NM_001321269.2:c.811del
NM_001330397.2:c.811del
NM_017777.4:c.811delMANE SELECT
NP_001308197.1:p.His68fs
NP_001308198.1:p.His271fs
NP_001317326.1:p.His271fs
NP_060247.2:p.His271fs
LRG_687t2:c.781del
LRG_687:g.11577del
LRG_687p2:p.His261fs
NC_000017.10:g.56290390del
NC_000017.10:g.56290395del

Protein change:

H271fs

Links:

dbSNP: rs1968969593

NCBI 1000 Genomes Browser:

rs1968969593

Molecular consequence:

NM_001321268.2:c.202del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001321269.2:c.811del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001330397.2:c.811del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_017777.4:c.811del - frameshift variant - [Sequence Ontology: SO:0001589]

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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Chain C, POLYMERASE ACIDIC PROTEIN
Chain C, POLYMERASE ACIDIC PROTEIN
gi|582045096|pdb|4CHC|C

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002087646	Natera, Inc.	no assertion criteria provided	Pathogenic (Jul 2, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002087646

Natera, Inc.

no assertion criteria provided

Pathogenic
(Jul 2, 2020)

germline

clinical testing

Help

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV002087646.1

#	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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