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NM_017777.4(MKS1):c.763G>A (p.Gly255Arg) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 23, 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:
RCV001844701.1

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

NM_017777.4(MKS1):c.763G>A (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>A (p.Gly255Arg)
HGVS:
  • NC_000017.11:g.58213077C>T
  • NG_013032.1:g.11529G>A
  • NM_001321268.2:c.154G>A
  • NM_001321269.2:c.763G>A
  • NM_001330397.2:c.763G>A
  • NM_017777.4:c.763G>AMANE SELECT
  • NP_001308197.1:p.Gly52Arg
  • NP_001308198.1:p.Gly255Arg
  • NP_001317326.1:p.Gly255Arg
  • NP_060247.2:p.Gly255Arg
  • LRG_687t1:c.763G>A
  • LRG_687:g.11529G>A
  • NC_000017.10:g.56290438C>T
  • NM_017777.3:c.763G>A
Protein change:
G255R
Links:
dbSNP: rs201237547
NCBI 1000 Genomes Browser:
rs201237547
Molecular consequence:
  • NM_001321268.2:c.154G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321269.2:c.763G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330397.2:c.763G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_017777.4:c.763G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002103922Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Feb 23, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV002103922.1

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

Description

Variant summary: MKS1 c.763G>A (p.Gly255Arg) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 4e-06 in 249580 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.763G>A in individuals affected with Meckel Syndrome Type 1 and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.

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

Last Updated: Dec 24, 2023