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NM_001079872.2(CUL4B):c.2650G>A (p.Asp884Asn) AND X-linked intellectual disability Cabezas type

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 11, 2022
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:
RCV001849897.1

Allele description [Variation Report for NM_001079872.2(CUL4B):c.2650G>A (p.Asp884Asn)]

NM_001079872.2(CUL4B):c.2650G>A (p.Asp884Asn)

Gene:
CUL4B:cullin 4B [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq24
Genomic location:
Preferred name:
NM_001079872.2(CUL4B):c.2650G>A (p.Asp884Asn)
HGVS:
  • NC_000023.11:g.120526799C>T
  • NG_009388.1:g.54031G>A
  • NM_001079872.2:c.2650G>AMANE SELECT
  • NM_001330624.2:c.2665G>A
  • NM_001369145.1:c.2116G>A
  • NM_003588.4:c.2704G>A
  • NP_001073341.1:p.Asp884Asn
  • NP_001317553.1:p.Asp889Asn
  • NP_001356074.1:p.Asp706Asn
  • NP_003579.3:p.Asp902Asn
  • NC_000023.10:g.119660654C>T
Protein change:
D706N
Links:
dbSNP: rs1922994124
NCBI 1000 Genomes Browser:
rs1922994124
Molecular consequence:
  • NM_001079872.2:c.2650G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330624.2:c.2665G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369145.1:c.2116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003588.4:c.2704G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
X-linked intellectual disability Cabezas type (MRXSC)
Synonyms:
CABEZAS SYNDROME; MENTAL RETARDATION, X-LINKED, SYNDROMIC 15; Mental retardation with short stature, hypogonadism and abnormal gait, X-linked; See all synonyms [MedGen]
Identifiers:
Gene: 114890; MONDO: MONDO:0010306; MedGen: C1845861; Orphanet: 85289; Orphanet: 85293; OMIM: 300354

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002104229Institute of Human Genetics, University of Goettingen
no assertion criteria provided
Uncertain significance
(Jan 11, 2022) 		maternalclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Institute of Human Genetics, University of Goettingen, SCV002104229.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Dec 24, 2023