NM_001080522.2(CC2D2A):c.3850C>T (p.Arg1284Cys) AND Meckel syndrome type 6

Clinical significance:Likely pathogenic

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001261604.1

Allele description [Variation Report for NM_001080522.2(CC2D2A):c.3850C>T (p.Arg1284Cys)]

NM_001080522.2(CC2D2A):c.3850C>T (p.Arg1284Cys)

Gene:
CC2D2A:coiled-coil and C2 domain containing 2A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4p15.32
Genomic location:
Preferred name:
NM_001080522.2(CC2D2A):c.3850C>T (p.Arg1284Cys)
HGVS:
  • NC_000004.12:g.15580046C>T
  • NG_013035.1:g.115181C>T
  • NM_001080522.2:c.3850C>T
  • NP_001073991.2:p.Arg1284Cys
  • LRG_697t1:c.3850C>T
  • LRG_697:g.115181C>T
  • LRG_697p1:p.Arg1284Cys
  • NC_000004.11:g.15581669C>T
  • Q9P2K1:p.Arg1284Cys
Protein change:
R1284C
Links:
UniProtKB: Q9P2K1#VAR_076888; dbSNP: rs779823379
NCBI 1000 Genomes Browser:
rs779823379
Molecular consequence:
  • NM_001080522.2:c.3850C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
3

Condition(s)

Name:
Meckel syndrome type 6 (MKS6)
Identifiers:
MONDO: MONDO:0012848; MedGen: C2676790; Orphanet: 564; OMIM: 612284

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001438887Pathology and Clinical Laboratory Medicine,King Fahad Medical Citycriteria provided, single submitter
Likely pathogenicgermlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Arabgermlineyes3not providednot providednot providednot providedclinical testing

Details of each submission

From Pathology and Clinical Laboratory Medicine,King Fahad Medical City, SCV001438887.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Arab3not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided3not providednot providednot provided

Last Updated: Oct 8, 2021

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