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NM_004523.4(KIF11):c.1A>G (p.Met1Val) AND Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability

Germline classification:
Likely pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001255743.2

Allele description [Variation Report for NM_004523.4(KIF11):c.1A>G (p.Met1Val)]

NM_004523.4(KIF11):c.1A>G (p.Met1Val)

Gene:
KIF11:kinesin family member 11 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q23.33
Genomic location:
Preferred name:
NM_004523.4(KIF11):c.1A>G (p.Met1Val)
HGVS:
  • NC_000010.11:g.92593376A>G
  • NG_032580.1:g.5309A>G
  • NM_004523.4:c.1A>GMANE SELECT
  • NP_004514.2:p.Met1Val
  • NC_000010.10:g.94353133A>G
  • NM_004523.3:c.1A>G
Protein change:
M1V
Links:
Molecular consequence:
  • NM_004523.4:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_004523.4:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability (MCLMR)
Synonyms:
MICROCEPHALY, LYMPHEDEMA, CHORIORETINAL DYSPLASIA SYNDROME; Microcephaly lymphedema chorioretinal dysplasia; MICROCEPHALY AND CHORIORETINOPATHY WITH OR WITHOUT MENTAL RETARDATION, AUTOSOMAL DOMINANT; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007918; MedGen: C1835265; Orphanet: 2526; OMIM: 152950

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001432318Service de Génétique Moléculaire, Hôpital Robert Debré
no assertion criteria provided
Likely pathogenicunknownclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot provided1not providednot providednot providedclinical testing

Details of each submission

From Service de Génétique Moléculaire, Hôpital Robert Debré, SCV001432318.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot provided1not provided

Last Updated: Sep 29, 2024