NM_153704.6(TMEM67):c.2498T>C (p.Ile833Thr) AND Meckel syndrome, type 3

Clinical significance:Pathogenic (Last evaluated: May 23, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000995902.1

Allele description [Variation Report for NM_153704.6(TMEM67):c.2498T>C (p.Ile833Thr)]

NM_153704.6(TMEM67):c.2498T>C (p.Ile833Thr)

Gene:
TMEM67:transmembrane protein 67 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8q22.1
Genomic location:
Preferred name:
NM_153704.6(TMEM67):c.2498T>C (p.Ile833Thr)
HGVS:
  • NC_000008.11:g.93808898T>C
  • NG_009190.1:g.59055T>C
  • NM_001142301.1:c.2255T>C
  • NM_153704.5:c.2498T>C
  • NM_153704.6:c.2498T>CMANE SELECT
  • NP_001135773.1:p.Ile752Thr
  • NP_714915.3:p.Ile833Thr
  • NP_714915.3:p.Ile833Thr
  • LRG_688t1:c.2498T>C
  • LRG_688t2:c.2255T>C
  • LRG_688:g.59055T>C
  • LRG_688p1:p.Ile833Thr
  • LRG_688p2:p.Ile752Thr
  • NC_000008.10:g.94821126T>C
  • NR_024522.2:n.2519T>C
  • Q5HYA8:p.Ile833Thr
Protein change:
I752T; ILE833THR
Links:
UniProtKB: Q5HYA8#VAR_063801; OMIM: 609884.0013; dbSNP: rs267607119
NCBI 1000 Genomes Browser:
rs267607119
Molecular consequence:
  • NM_001142301.1:c.2255T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_153704.5:c.2498T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_153704.6:c.2498T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_024522.2:n.2519T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

Condition(s)

Name:
Meckel syndrome, type 3 (MKS3)
Synonyms:
MECKEL-GRUBER SYNDROME, TYPE 3
Identifiers:
MONDO: MONDO:0011821; MedGen: C1846357; Orphanet: 564; OMIM: 607361

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001150294Institute of Human Genetics, Klinikum rechts der Isarcriteria provided, single submitter
Pathogenic
(May 23, 2018)
paternalclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedpaternalyes1not providednot provided1not providedclinical testing

Details of each submission

From Institute of Human Genetics, Klinikum rechts der Isar, SCV001150294.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1paternalyes1bloodnot provided1not providednot providednot provided

Last Updated: Apr 12, 2021

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