NM_017777.4(MKS1):c.823GAG[5] (p.Glu278dup) AND multiple conditions

Clinical significance:Uncertain significance (Last evaluated: Dec 18, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000671511.1

Allele description [Variation Report for NM_017777.4(MKS1):c.823GAG[5] (p.Glu278dup)]

NM_017777.4(MKS1):c.823GAG[5] (p.Glu278dup)

Gene:
MKS1:MKS transition zone complex subunit 1 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
17q22
Genomic location:
Preferred name:
NM_017777.4(MKS1):c.823GAG[5] (p.Glu278dup)
HGVS:
  • NC_000017.11:g.58213007TCC[5]
  • NG_013032.1:g.11589GAG[5]
  • NM_001321268.2:c.214GAG[5]
  • NM_001321269.2:c.823GAG[5]
  • NM_001330397.2:c.823GAG[5]
  • NM_017777.4:c.823GAG[5]MANE SELECT
  • NP_001308197.1:p.Glu75dup
  • NP_001308198.1:p.Glu278dup
  • NP_001317326.1:p.Glu278dup
  • NP_060247.2:p.Glu278dup
  • LRG_687t2:c.793GAG[5]
  • LRG_687:g.11589GAG[5]
  • LRG_687p2:p.Glu268dup
  • NC_000017.10:g.56290368TCC[5]
Links:
dbSNP: rs780100856
NCBI 1000 Genomes Browser:
rs780100856
Molecular consequence:
  • NM_001321268.2:c.214GAG[5] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001321269.2:c.823GAG[5] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001330397.2:c.823GAG[5] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_017777.4:c.823GAG[5] - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

Name:
Bardet-Biedl syndrome 13 (BBS13)
Identifiers:
MONDO: MONDO:0014441; MedGen: C2673873; Orphanet: 110; OMIM: 615990
Name:
Meckel syndrome type 1 (MKS1)
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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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000796494Counsylcriteria provided, single submitter
Uncertain significance
(Dec 18, 2017)
unknownclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Counsyl, SCV000796494.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 11, 2021

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