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NM_017777.4(MKS1):c.1450_1453dup (p.Thr485fs) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 20, 2022
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:
RCV002496727.1

Allele description [Variation Report for NM_017777.4(MKS1):c.1450_1453dup (p.Thr485fs)]

NM_017777.4(MKS1):c.1450_1453dup (p.Thr485fs)

Gene:
MKS1:MKS transition zone complex subunit 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
17q22
Genomic location:
Preferred name:
NM_017777.4(MKS1):c.1450_1453dup (p.Thr485fs)
HGVS:
  • NC_000017.11:g.58206504_58206507dup
  • NG_013020.1:g.18777_18780dup
  • NG_013032.1:g.18101_18104dup
  • NM_001321268.2:c.841_844dup
  • NM_001321269.2:c.1408-125_1408-122dup
  • NM_001330397.2:c.1274-125_1274-122dup
  • NM_017777.4:c.1450_1453dupMANE SELECT
  • NP_001308197.1:p.Thr282fs
  • NP_060247.2:p.Thr485fs
  • NP_060247.2:p.Thr485fs
  • LRG_687t1:c.1450_1453dup
  • LRG_687:g.18101_18104dup
  • LRG_687p1:p.Thr485fs
  • NC_000017.10:g.56283862_56283863insTGCC
  • NC_000017.10:g.56283865_56283868dup
  • NM_017777.3:c.1450_1453dup
  • NM_017777.3:c.1450_1453dupGGCA
  • NM_017777.4:c.1450_1453dup
Protein change:
T282fs
Links:
dbSNP: rs386834044
NCBI 1000 Genomes Browser:
rs386834044
Molecular consequence:
  • NM_001321268.2:c.841_844dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_017777.4:c.1450_1453dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001321269.2:c.1408-125_1408-122dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001330397.2:c.1274-125_1274-122dup - intron variant - [Sequence Ontology: SO:0001627]

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
SCV002812864Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Mar 20, 2022) 		unknownclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Fulgent Genetics, Fulgent Genetics, SCV002812864.1

#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: Sep 29, 2024