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NM_017777.3(MKS1):c.80+2T>C

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
3 (Most recent: Jul 10, 2018)
Last evaluated:
Feb 24, 2017
Accession:
VCV000001390.1
Variation ID:
1390
Description:
single nucleotide variant
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NM_017777.3(MKS1):c.80+2T>C

Allele ID
16429
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q22
Genomic location
17: 58219149 (GRCh38) GRCh38 UCSC
17: 56296510 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.56296510A>G
NC_000017.11:g.58219149A>G
NM_001321268.2:c.-432+2T>C splice donor
... more HGVS
Protein change
-
Other names
IVS1DS, T-C, +2
Canonical SPDI
NC_000017.11:58219148:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA342695
OMIM: 609883.0003
dbSNP: rs386834052
Varsome
Comment on variant
NCBI staff reviewed the sequence information reported in PubMed 16415886 Supplementary Fig. 2f to determine the location of this allele on the current reference sequence.
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Feb 24, 2017 RCV000665702.1
Pathogenic/Likely pathogenic 2 no assertion criteria provided Feb 1, 2006 RCV000022413.8
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MKS1 - - GRCh38
GRCh37
453 466

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Feb 24, 2017)
criteria provided, single submitter
Method: clinical testing
Meckel syndrome type 1
Bardet-Biedl syndrome 13
Joubert syndrome 28
Allele origin: unknown
Counsyl
Accession: SCV000789865.1
Submitted: (Jul 10, 2018)
Evidence details
Publications
PubMed (1)
probable-pathogenic
(-)
no assertion criteria provided
Method: not provided
Meckel syndrome type1
Allele origin: not provided
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)
Accession: SCV000082448.1
Submitted: (May 19, 2013)
Comment:
FinDis database variant: This variant was not found or characterized by our laboratory, data were collected from public sources: see reference
Evidence details
Comment:
Converted during submission to Likely pathogenic.
Pathogenic
(Feb 01, 2006)
no assertion criteria provided
Method: literature only
MECKEL SYNDROME, TYPE 1
Allele origin: germline
OMIM
Accession: SCV000043098.3
Submitted: (Nov 27, 2012)
Evidence details
Publications
PubMed (1)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome. Kyttälä M Nature genetics 2006 PMID: 16415886

Text-mined citations for rs386834052...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Aug 11, 2021