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NM_012216.4(MID2):c.2070del (p.Phe691fs) AND Intellectual disability, X-linked 101

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 12, 2021
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:
RCV001352687.1

Allele description [Variation Report for NM_012216.4(MID2):c.2070del (p.Phe691fs)]

NM_012216.4(MID2):c.2070del (p.Phe691fs)

Genes:
MID2:midline 2 [Gene - OMIM - HGNC]
LOC101928335:uncharacterized LOC101928335 [Gene]
Variant type:
Deletion
Cytogenetic location:
Xq22.3
Genomic location:
Preferred name:
NM_012216.4(MID2):c.2070del (p.Phe691fs)
HGVS:
  • NC_000023.11:g.107926935del
  • NG_011907.2:g.106082del
  • NM_001382751.1:c.2010del
  • NM_001382752.1:c.1920del
  • NM_012216.4:c.2070delMANE SELECT
  • NM_052817.3:c.1980del
  • NP_001369680.1:p.Phe671fs
  • NP_001369681.1:p.Phe641fs
  • NP_036348.2:p.Phe691fs
  • NP_438112.2:p.Phe661fs
  • NC_000023.10:g.107170165del
  • NM_012216.4:c.2070delAMANE SELECT
Protein change:
F641fs
Links:
dbSNP: rs1933190705
NCBI 1000 Genomes Browser:
rs1933190705
Molecular consequence:
  • NM_001382751.1:c.2010del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001382752.1:c.1920del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_012216.4:c.2070del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_052817.3:c.1980del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Intellectual disability, X-linked 101 (XLID101)
Identifiers:
MONDO: MONDO:0010489; MedGen: C3890168; Orphanet: 777; OMIM: 300928

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001547480Laboratory of Medical Genetics, University of Torino
no assertion criteria provided
Likely pathogenic
(Mar 12, 2021) 		maternalresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Laboratory of Medical Genetics, University of Torino, SCV001547480.1

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

Last Updated: Aug 5, 2023