NM_015443.4(KANSL1):c.1765G>A (p.Val589Met) AND Neurodevelopmental abnormality

Clinical significance:Likely benign (Last evaluated: Apr 3, 2020)

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:
RCV001264637.1

Allele description [Variation Report for NM_015443.4(KANSL1):c.1765G>A (p.Val589Met)]

NM_015443.4(KANSL1):c.1765G>A (p.Val589Met)

Gene:
KANSL1:KAT8 regulatory NSL complex subunit 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_015443.4(KANSL1):c.1765G>A (p.Val589Met)
HGVS:
  • NC_000017.11:g.46066620C>T
  • NG_032784.1:g.163755G>A
  • NM_001193465.2:c.1765G>A
  • NM_001193466.2:c.1765G>A
  • NM_001379198.1:c.1765G>A
  • NM_015443.4:c.1765G>AMANE SELECT
  • NP_001180394.1:p.Val589Met
  • NP_001180395.1:p.Val589Met
  • NP_001366127.1:p.Val589Met
  • NP_056258.1:p.Val589Met
  • NC_000017.10:g.44143986C>T
  • NM_001193466.1:c.1765G>A
Protein change:
V589M
Molecular consequence:
  • NM_001193465.2:c.1765G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001193466.2:c.1765G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379198.1:c.1765G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015443.4:c.1765G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Neurodevelopmental abnormality
Identifiers:
MedGen: C4022737; Human Phenotype Ontology: HP:0012759

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001442852Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicineno assertion criteria providedLikely benign
(Apr 3, 2020)
paternalclinical testing

Summary from all submissions

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

Details of each submission

From Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine, SCV001442852.1

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

Last Updated: Nov 12, 2020

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