NM_017777.4(MKS1):c.1166-2A>G AND multiple conditions

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Mar 1, 2018
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:: RCV000672973.1

Allele description [Variation Report for NM_017777.4(MKS1):c.1166-2A>G]

NM_017777.4(MKS1):c.1166-2A>G

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17q22

Genomic location:

Preferred name:

NM_017777.4(MKS1):c.1166-2A>G

HGVS:

NC_000017.11:g.58208003T>C
NG_013032.1:g.16603A>G
NM_001321268.2:c.557-2A>G
NM_001321269.2:c.1166-2A>G
NM_001330397.2:c.1166-2A>G
NM_001411113.1:c.1166-2A>G
NM_017777.4:c.1166-2A>GMANE SELECT
LRG_687t1:c.1166-2A>G
LRG_687:g.16603A>G
NC_000017.10:g.56285364T>C
NM_017777.3:c.1166-2A>G

Links:

dbSNP: rs1488635637

NCBI 1000 Genomes Browser:

rs1488635637

Molecular consequence:

NM_001321268.2:c.557-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001321269.2:c.1166-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001330397.2:c.1166-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001411113.1:c.1166-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_017777.4:c.1166-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:: Bardet-Biedl syndrome 13 (BBS13)
Identifiers:: MONDO: MONDO:0014441; MedGen: C2673873; Orphanet: 110; OMIM: 615990

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

Name:: Joubert syndrome 28 (JBTS28)
Identifiers:: MONDO: MONDO:0014928; MedGen: C4310705; OMIM: 617121

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000798135	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Likely pathogenic (Mar 1, 2018)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000798135

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Likely pathogenic
(Mar 1, 2018)

unknown

clinical testing

Citation Link

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

Details of each submission

From Counsyl, SCV000798135.1

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

Last Updated: Feb 28, 2024

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