NM_001329943.3(KIAA0586):c.2407T>G (p.Ser803Ala) AND Meckel-Gruber syndrome

Clinical significance:Likely pathogenic

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000256428.1

Allele description [Variation Report for NM_001329943.3(KIAA0586):c.2407T>G (p.Ser803Ala)]

NM_001329943.3(KIAA0586):c.2407T>G (p.Ser803Ala)

Gene:
KIAA0586:KIAA0586 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q23.1
Genomic location:
Preferred name:
NM_001329943.3(KIAA0586):c.2407T>G (p.Ser803Ala)
HGVS:
  • NC_000014.9:g.58467887T>G
  • NG_051335.2:g.45503T>G
  • NM_001244189.2:c.2566T>G
  • NM_001244190.2:c.2362T>G
  • NM_001244191.1:c.2152T>G
  • NM_001244192.2:c.2275T>G
  • NM_001244193.1:c.1987T>G
  • NM_001329943.3:c.2407T>GMANE SELECT
  • NM_001329944.2:c.2407T>G
  • NM_001329945.2:c.2152T>G
  • NM_001329946.2:c.2407T>G
  • NM_001329947.2:c.2407T>G
  • NM_001364700.1:c.2152T>G
  • NM_001364701.2:c.2152T>G
  • NM_014749.5:c.2179T>G
  • NP_001231118.1:p.Ser856Ala
  • NP_001231119.1:p.Ser788Ala
  • NP_001231120.1:p.Ser718Ala
  • NP_001231121.1:p.Ser759Ala
  • NP_001231122.1:p.Ser663Ala
  • NP_001316872.1:p.Ser803Ala
  • NP_001316873.1:p.Ser803Ala
  • NP_001316874.1:p.Ser718Ala
  • NP_001316875.1:p.Ser803Ala
  • NP_001316876.1:p.Ser803Ala
  • NP_001351629.1:p.Ser718Ala
  • NP_001351630.1:p.Ser718Ala
  • NP_055564.3:p.Ser727Ala
  • LRG_1096t1:c.2566T>G
  • LRG_1096t2:c.2179T>G
  • LRG_1096t3:c.2407T>G
  • LRG_1096:g.45503T>G
  • LRG_1096p1:p.Ser856Ala
  • LRG_1096p2:p.Ser727Ala
  • LRG_1096p3:p.Ser803Ala
  • NC_000014.8:g.58934605T>G
  • NM_001244189.1:c.2566T>G
  • p.(Ser856Ala)
Protein change:
S663A
Links:
dbSNP: rs886039806
NCBI 1000 Genomes Browser:
rs886039806
Molecular consequence:
  • NM_001244189.2:c.2566T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001244190.2:c.2362T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001244191.1:c.2152T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001244192.2:c.2275T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001244193.1:c.1987T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001329943.3:c.2407T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001329944.2:c.2407T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001329945.2:c.2152T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001329946.2:c.2407T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001329947.2:c.2407T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001364700.1:c.2152T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001364701.2:c.2152T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014749.5:c.2179T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Meckel-Gruber syndrome
Synonyms:
DYSENCEPHALIA SPLANCHNOCYSTICA; Gruber syndrome; Dysencephalia splachnocystica
Identifiers:
MONDO: MONDO:0018921; MedGen: C0265215; OMIM: PS249000

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000322788Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centreno assertion criteria providedLikely pathogenicgermlineresearch

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedresearch

Details of each submission

From Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre, SCV000322788.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Feb 3, 2021

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