NM_017777.4(MKS1):c.1115_1117del (p.Ser372del) AND Meckel syndrome type 1

Clinical significance:Pathogenic (Last evaluated: Sep 16, 2020)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001272923.1

Allele description [Variation Report for NM_017777.4(MKS1):c.1115_1117del (p.Ser372del)]

NM_017777.4(MKS1):c.1115_1117del (p.Ser372del)

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.1115_1117del (p.Ser372del)
HGVS:
  • NC_000017.11:g.58208155_58208157del
  • NG_013032.1:g.16451_16453del
  • NM_001321268.2:c.506_508del
  • NM_001321269.2:c.1115_1117del
  • NM_001330397.2:c.1115_1117del
  • NM_017777.4:c.1115_1117delMANE SELECT
  • NP_001308197.1:p.Ser169del
  • NP_001308198.1:p.Ser372del
  • NP_001317326.1:p.Ser372del
  • NP_060247.2:p.Ser372del
  • LRG_687:g.16451_16453del
  • NC_000017.10:g.56285516_56285518del
  • NM_017777.3:c.1115_1117delCCT
Protein change:
S169del
Links:
OMIM: 609883.0011; dbSNP: rs754279998
NCBI 1000 Genomes Browser:
rs754279998
Molecular consequence:
  • NM_001321268.2:c.506_508del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001321269.2:c.1115_1117del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001330397.2:c.1115_1117del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_017777.4:c.1115_1117del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:
Meckel syndrome type 1 (MKS1)
Synonyms:
MECKEL-GRUBER SYNDROME, TYPE 1
Identifiers:
MONDO: MONDO:0009571; MedGen: C3714506; Orphanet: 564; OMIM: 249000

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001455370Natera, Inc.no assertion criteria providedPathogenic
(Sep 16, 2020)
germlineclinical testing

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV001455370.1

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

Last Updated: Sep 6, 2021

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