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NM_014780.5(CUL7):c.4391A>C (p.His1464Pro) AND 3M syndrome 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 1, 2005
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:
RCV000001681.3

Allele description [Variation Report for NM_014780.5(CUL7):c.4391A>C (p.His1464Pro)]

NM_014780.5(CUL7):c.4391A>C (p.His1464Pro)

Gene:
CUL7:cullin 7 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p21.1
Genomic location:
Preferred name:
NM_014780.5(CUL7):c.4391A>C (p.His1464Pro)
HGVS:
  • NC_000006.12:g.43038891T>G
  • NG_016205.1:g.20055A>C
  • NM_001168370.2:c.4487A>C
  • NM_001374872.1:c.4487A>C
  • NM_001374873.1:c.4391A>C
  • NM_001374874.1:c.4388A>C
  • NM_014780.5:c.4391A>CMANE SELECT
  • NP_001161842.2:p.His1496Pro
  • NP_001361801.1:p.His1496Pro
  • NP_001361802.1:p.His1464Pro
  • NP_001361803.1:p.His1463Pro
  • NP_055595.2:p.His1464Pro
  • NC_000006.11:g.43006629T>G
  • NM_014780.4:c.4391A>C
  • Q14999:p.His1464Pro
Protein change:
H1463P; HIS1464PRO
Links:
UniProtKB: Q14999#VAR_026124; OMIM: 609577.0002; dbSNP: rs121918229
NCBI 1000 Genomes Browser:
rs121918229
Molecular consequence:
  • NM_001168370.2:c.4487A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374872.1:c.4487A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374873.1:c.4391A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374874.1:c.4388A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014780.5:c.4391A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
3M syndrome 1
Synonyms:
Three M syndrome 1
Identifiers:
MONDO: MONDO:0010117; MedGen: C2678312; Orphanet: 2616; OMIM: 273750

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000021837OMIM
no assertion criteria provided
Pathogenic
(Oct 1, 2005) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Identification of mutations in CUL7 in 3-M syndrome.

Huber C, Dias-Santagata D, Glaser A, O'Sullivan J, Brauner R, Wu K, Xu X, Pearce K, Wang R, Uzielli ML, Dagoneau N, Chemaitilly W, Superti-Furga A, Dos Santos H, Mégarbané A, Morin G, Gillessen-Kaesbach G, Hennekam R, Van der Burgt I, Black GC, Clayton PE, Read A, et al.

Nat Genet. 2005 Oct;37(10):1119-24. Epub 2005 Sep 4.

PubMed [citation]
PMID:
16142236

Details of each submission

From OMIM, SCV000021837.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In 2 consanguineous Italian families with 3M syndrome-1 (3M1; 273750), Huber et al. (2005) found that affected individuals were homozygous for a 4391A-C transversion in exon 23 of the CUL7 gene, resulting in a his1464-to-pro (H1464P) substitution. Founder effect was presumably involved and was supported by the fact that the 2 families came from the same village.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 6, 2024