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NM_017777.4(MKS1):c.829G>T (p.Glu277Ter) AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Oct 26, 2017
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:
RCV000670245.1

Allele description [Variation Report for NM_017777.4(MKS1):c.829G>T (p.Glu277Ter)]

NM_017777.4(MKS1):c.829G>T (p.Glu277Ter)

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.829G>T (p.Glu277Ter)
HGVS:
  • NC_000017.11:g.58213011C>A
  • NG_013032.1:g.11595G>T
  • NM_001321268.2:c.220G>T
  • NM_001321269.2:c.829G>T
  • NM_001330397.2:c.829G>T
  • NM_017777.4:c.829G>TMANE SELECT
  • NP_001308197.1:p.Glu74Ter
  • NP_001308198.1:p.Glu277Ter
  • NP_001317326.1:p.Glu277Ter
  • NP_060247.2:p.Glu277Ter
  • NP_060247.2:p.Glu277Ter
  • LRG_687t1:c.829G>T
  • LRG_687:g.11595G>T
  • LRG_687p1:p.Glu277Ter
  • NC_000017.10:g.56290372C>A
  • NM_017777.3:c.829G>T
Protein change:
E277*
Links:
dbSNP: rs1555599412
NCBI 1000 Genomes Browser:
rs1555599412
Molecular consequence:
  • NM_001321268.2:c.220G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001321269.2:c.829G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001330397.2:c.829G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_017777.4:c.829G>T - nonsense - [Sequence Ontology: SO:0001587]

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000795076Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Likely pathogenic
(Oct 26, 2017) 		unknownclinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Carrier testing for severe childhood recessive diseases by next-generation sequencing.

Bell CJ, Dinwiddie DL, Miller NA, Hateley SL, Ganusova EE, Mudge J, Langley RJ, Zhang L, Lee CC, Schilkey FD, Sheth V, Woodward JE, Peckham HE, Schroth GP, Kim RW, Kingsmore SF.

Sci Transl Med. 2011 Jan 12;3(65):65ra4. doi: 10.1126/scitranslmed.3001756.

PubMed [citation]
PMID:
21228398
PMCID:
PMC3740116

Details of each submission

From Counsyl, SCV000795076.1

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

Last Updated: Mar 5, 2024