U.S. flag

An official website of the United States government

NM_001008537.3(NEXMIF):c.2506del (p.His836fs) AND X-linked intellectual disability, Cantagrel type

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 12, 2022
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:
RCV003991181.2

Allele description [Variation Report for NM_001008537.3(NEXMIF):c.2506del (p.His836fs)]

NM_001008537.3(NEXMIF):c.2506del (p.His836fs)

Gene:
NEXMIF:neurite extension and migration factor [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
Xq13.3
Genomic location:
Preferred name:
NM_001008537.3(NEXMIF):c.2506del (p.His836fs)
HGVS:
  • NC_000023.11:g.74742052del
  • NG_027726.1:g.188402del
  • NM_001008537.3:c.2506delMANE SELECT
  • NP_001008537.1:p.His836fs
  • NC_000023.10:g.73961887del
Protein change:
H836fs
Molecular consequence:
  • NM_001008537.3:c.2506del - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
X-linked intellectual disability, Cantagrel type (XLID98)
Synonyms:
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 98
Identifiers:
MONDO: MONDO:0010483; MedGen: C3806730; Orphanet: 85277; OMIM: 300912

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004808501MVZ Medizinische Genetik Mainz
criteria provided, single submitter

(UK Practice Guidelines For Variant Classification V4 01 2020)		Pathogenic
(Dec 12, 2022) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From MVZ Medizinische Genetik Mainz, SCV004808501.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

ACMG Criteria: PVS1, PM6_SUP, PM2_SUP

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jun 2, 2024