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NM_017777.4(MKS1):c.763G>C (p.Gly255Arg) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 16, 2018
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:
RCV000657869.1

Allele description [Variation Report for NM_017777.4(MKS1):c.763G>C (p.Gly255Arg)]

NM_017777.4(MKS1):c.763G>C (p.Gly255Arg)

Gene:
MKS1:MKS transition zone complex subunit 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q22
Genomic location:
Preferred name:
NM_017777.4(MKS1):c.763G>C (p.Gly255Arg)
HGVS:
  • NC_000017.11:g.58213077C>G
  • NG_013032.1:g.11529G>C
  • NM_001321268.2:c.154G>C
  • NM_001321269.2:c.763G>C
  • NM_001330397.2:c.763G>C
  • NM_017777.4:c.763G>CMANE SELECT
  • NP_001308197.1:p.Gly52Arg
  • NP_001308198.1:p.Gly255Arg
  • NP_001317326.1:p.Gly255Arg
  • NP_060247.2:p.Gly255Arg
  • NP_060247.2:p.Gly255Arg
  • LRG_687t1:c.763G>C
  • LRG_687:g.11529G>C
  • LRG_687p1:p.Gly255Arg
  • NC_000017.10:g.56290438C>G
  • NM_017777.3:c.763G>C
Protein change:
G255R
Links:
dbSNP: rs201237547
NCBI 1000 Genomes Browser:
rs201237547
Molecular consequence:
  • NM_001321268.2:c.154G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321269.2:c.763G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330397.2:c.763G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_017777.4:c.763G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000779629GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(May 16, 2018) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000779629.2

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

Description

The G255R variant in the MKS1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The G255R variant is observed in 21/30,782 (0.0682%) alleles from individuals of South Asian background in large population cohorts (Lek et al., 2016). The G255R variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. We interpret G255R as a variant of uncertain significance.

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

Last Updated: Sep 29, 2024