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NM_001367721.1(CASK):c.774_780del (p.Met258fs) AND Syndromic X-linked intellectual disability Najm type

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 28, 2019
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:
RCV000990802.1

Allele description [Variation Report for NM_001367721.1(CASK):c.774_780del (p.Met258fs)]

NM_001367721.1(CASK):c.774_780del (p.Met258fs)

Gene:
CASK:calcium/calmodulin dependent serine protein kinase [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
Xp11.4
Genomic location:
Preferred name:
NM_001367721.1(CASK):c.774_780del (p.Met258fs)
HGVS:
  • NC_000023.11:g.41660493_41660499del
  • NG_016754.2:g.267539_267545del
  • NM_001126054.3:c.771_777delGATGCTG
  • NM_001126055.3:c.771_777delGATGCTG
  • NM_001367721.1:c.774_780delMANE SELECT
  • NM_001410745.1:c.771_777delGATGCTG
  • NM_003688.4:c.771_777delGATGCTG
  • NP_001119526.1:p.Met258Ilefs
  • NP_001119526.1:p.Met258fs
  • NP_001119527.1:p.Met258Ilefs
  • NP_001119527.1:p.Met258fs
  • NP_001354650.1:p.Met258fs
  • NP_001397674.1:p.Met258Ilefs
  • NP_003679.2:p.Met258Ilefs
  • NP_003679.2:p.Met258fs
  • NC_000023.10:g.41519743_41519749delATCCAGC
  • NC_000023.10:g.41519746_41519752del
  • NM_001126054.2:c.774_780del
  • NM_001126055.2:c.774_780del
  • NM_003688.3:c.774_780del
Protein change:
M258fs
Links:
dbSNP: rs1602424869
NCBI 1000 Genomes Browser:
rs1602424869
Molecular consequence:
  • NM_001126054.3:c.771_777delGATGCTG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001126055.3:c.771_777delGATGCTG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001367721.1:c.774_780del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001410745.1:c.771_777delGATGCTG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_003688.4:c.771_777delGATGCTG - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Syndromic X-linked intellectual disability Najm type (MICPCH)
Synonyms:
MICPCH SYNDROME; Mental retardation and microcephaly with pontine and cerebellar hypoplasia; MENTAL RETARDATION, X-LINKED, SYNDROMIC, NAJM TYPE; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010417; MedGen: C2677903; Orphanet: 163937; OMIM: 300749

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001141841Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2017)		Pathogenic
(May 28, 2019) 		unknownclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Mendelics, SCV001141841.1

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

Last Updated: Aug 5, 2023