NM_017777.3(MKS1):c.27C>T (p.Asp9=) AND multiple conditions

Clinical significance:Likely benign (Last evaluated: Dec 6, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001086578.2

Allele description [Variation Report for NM_017777.3(MKS1):c.27C>T (p.Asp9=)]

NM_017777.3(MKS1):c.27C>T (p.Asp9=)

Gene:
MKS1:MKS transition zone complex subunit 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q22
Genomic location:
Preferred name:
NM_017777.3(MKS1):c.27C>T (p.Asp9=)
HGVS:
  • NC_000017.11:g.58219204G>A
  • NG_013032.1:g.5402C>T
  • NM_001321268.2:c.-485C>T
  • NM_001321269.2:c.27C>T
  • NM_001330397.2:c.27C>T
  • NM_017777.3:c.27C>T
  • NP_001308198.1:p.Asp9=
  • NP_001317326.1:p.Asp9=
  • NP_060247.2:p.Asp9=
  • LRG_687t1:c.27C>T
  • LRG_687t2:c.50+258C>T
  • LRG_687:g.5402C>T
  • LRG_687p1:p.Asp9=
  • NC_000017.10:g.56296565G>A
Links:
dbSNP: rs369488349
NCBI 1000 Genomes Browser:
rs369488349
Molecular consequence:
  • NM_001321268.2:c.-485C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001321269.2:c.27C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001330397.2:c.27C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_017777.3:c.27C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Joubert syndrome (JBTS)
Synonyms:
CEREBELLOPARENCHYMAL DISORDER IV; Cerebelloparenchymal disorder 4; Cerebellar vermis agenesis; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0018772; MedGen: C0431399; Orphanet: 475; OMIM: PS213300; Human Phenotype Ontology: HP:0002335
Name:
Meckel-Gruber syndrome
Synonyms:
DYSENCEPHALIA SPLANCHNOCYSTICA; Gruber syndrome; Dysencephalia splachnocystica
Identifiers:
MONDO: MONDO:0018921; MedGen: C0265215; OMIM: PS249000

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000758421Invitaecriteria provided, single submitter
Likely benign
(Dec 6, 2020)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV000758421.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 27, 2021

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