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NM_017777.3(MKS1):c.191-44G>A

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Jun 20, 2021)
Last evaluated:
Jun 10, 2021
Accession:
VCV000126273.2
Variation ID:
126273
Description:
single nucleotide variant
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NM_017777.3(MKS1):c.191-44G>A

Allele ID
131805
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q22
Genomic location
17: 58216780 (GRCh38) GRCh38 UCSC
17: 56294141 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.56294141C>T
NC_000017.11:g.58216780C>T
NM_001321268.2:c.-321-44G>A
... more HGVS
Protein change
-
Other names
NM_001165927.1:c.161-44G>A
Canonical SPDI
NC_000017.11:58216779:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.06030 (T)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.06399
Trans-Omics for Precision Medicine (TOPMed) 0.06527
Exome Aggregation Consortium (ExAC) 0.04067
The Genome Aggregation Database (gnomAD), exomes 0.03727
1000 Genomes Project 0.06030
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.06604
Links
ClinGen: CA150938
dbSNP: rs73329636
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 2 criteria provided, single submitter - RCV000114213.4
Benign 1 criteria provided, single submitter Jun 16, 2018 RCV000835383.1
Benign 1 criteria provided, single submitter Jun 10, 2021 RCV001527127.1
Benign 1 criteria provided, single submitter Jun 10, 2021 RCV001527128.1
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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
456 469

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000312934.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Jun 16, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000977174.1
Submitted: (Apr 12, 2019)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Benign
(Jun 10, 2021)
criteria provided, single submitter
Method: clinical testing
Bardet-Biedl syndrome 13
Allele origin: germline
Nilou-Genome Lab
Accession: SCV001738005.1
Submitted: (Jun 20, 2021)
Evidence details
Benign
(Jun 10, 2021)
criteria provided, single submitter
Method: clinical testing
Joubert syndrome 28
Allele origin: germline
Nilou-Genome Lab
Accession: SCV001738006.1
Submitted: (Jun 20, 2021)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
AllHighlyPenetrant
(Autosomal recessive inheritance)
Allele origin: germline
Genetic Services Laboratory, University of Chicago
Accession: SCV000147766.2
Submitted: (Jun 27, 2014)
Evidence details
Comment:
Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated … (more)

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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs73329636...

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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