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NM_017777.4(MKS1):c.435del (p.Thr146fs) AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 4, 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:
RCV002308071.2

Allele description [Variation Report for NM_017777.4(MKS1):c.435del (p.Thr146fs)]

NM_017777.4(MKS1):c.435del (p.Thr146fs)

Gene:
MKS1:MKS transition zone complex subunit 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17q22
Genomic location:
Preferred name:
NM_017777.4(MKS1):c.435del (p.Thr146fs)
HGVS:
  • NC_000017.11:g.58214822del
  • NG_013032.1:g.9785del
  • NM_001321268.2:c.-94-434del
  • NM_001321269.2:c.435del
  • NM_001330397.2:c.435del
  • NM_001411113.1:c.434delC
  • NM_017777.4:c.435delMANE SELECT
  • NP_001308198.1:p.Thr146fs
  • NP_001317326.1:p.Thr146fs
  • NP_001398042.1:p.Thr146Leufs
  • NP_060247.2:p.Thr146Leufs
  • NP_060247.2:p.Thr146fs
  • LRG_687t1:c.434del
  • LRG_687:g.9785del
  • LRG_687p1:p.Thr146Leufs
  • NC_000017.10:g.56292183del
  • NM_017777.3:c.434delC
Protein change:
T146fs
Molecular consequence:
  • NM_001321269.2:c.435del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001330397.2:c.435del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001411113.1:c.434delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_017777.4:c.435del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001321268.2:c.-94-434del - 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
SCV002601760Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2021))		Likely pathogenic
(Mar 4, 2022) 		unknownclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Myriad Genetics, Inc., SCV002601760.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

NM_017777.3(MKS1):c.435delC(T146Lfs*83) is expected to be pathogenic in the context of MKS1-related disorders. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in MKS1, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 24, 2022