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NM_006565.4(CTCF):c.-3_2delinsTC (p.Met1del) AND Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 19, 2018
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:
RCV001809164.1

Allele description [Variation Report for NM_006565.4(CTCF):c.-3_2delinsTC (p.Met1del)]

NM_006565.4(CTCF):c.-3_2delinsTC (p.Met1del)

Gene:
CTCF:CCCTC-binding factor [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
16q22.1
Genomic location:
Preferred name:
NM_006565.4(CTCF):c.-3_2delinsTC (p.Met1del)
HGVS:
  • NC_000016.10:g.67610830_67610834delinsTC
  • NG_033892.1:g.53424_53428delinsTC
  • NM_001191022.2:c.-32-5915_-32-5911delinsTC
  • NM_001363916.1:c.-3_2delinsTC
  • NM_006565.4:c.-3_2delinsTCMANE SELECT
  • NP_001350845.1:p.Met1del
  • NP_006556.1:p.Met1del
  • NC_000016.9:g.67644733_67644737delinsTC
  • NM_006565.3:c.-3_2delinsTC
Protein change:
M1del
Links:
dbSNP: rs2142822830
NCBI 1000 Genomes Browser:
rs2142822830
Molecular consequence:
  • NM_001363916.1:c.-3_2delinsTC - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_006565.4:c.-3_2delinsTC - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001363916.1:c.-3_2delinsTC - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_006565.4:c.-3_2delinsTC - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_001191022.2:c.-32-5915_-32-5911delinsTC - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome (MRD21)
Synonyms:
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 21
Identifiers:
MONDO: MONDO:0014213; MedGen: C3809686; Orphanet: 363611; OMIM: 615502

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002059604Centogene AG - the Rare Disease Company
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jan 19, 2018) 		de novoclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Centogene AG - the Rare Disease Company, SCV002059604.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 18, 2024