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NM_014780.5(CUL7):c.3379_3380del (p.Trp1127fs) AND 3M syndrome 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 1, 2009
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:
RCV000001685.4

Allele description [Variation Report for NM_014780.5(CUL7):c.3379_3380del (p.Trp1127fs)]

NM_014780.5(CUL7):c.3379_3380del (p.Trp1127fs)

Gene:
CUL7:cullin 7 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
6p21.1
Genomic location:
Preferred name:
NM_014780.5(CUL7):c.3379_3380del (p.Trp1127fs)
HGVS:
  • NC_000006.12:g.43043156_43043157del
  • NG_016205.1:g.15789_15790del
  • NM_001168370.2:c.3475_3476del
  • NM_001374872.1:c.3475_3476del
  • NM_001374873.1:c.3379_3380del
  • NM_001374874.1:c.3376_3377del
  • NM_014780.5:c.3379_3380delMANE SELECT
  • NP_001161842.2:p.Trp1159fs
  • NP_001361801.1:p.Trp1159fs
  • NP_001361802.1:p.Trp1127fs
  • NP_001361803.1:p.Trp1126fs
  • NP_055595.2:p.Trp1127fs
  • NP_055595.2:p.Trp1127fs
  • NC_000006.11:g.43010894_43010895del
  • NM_014780.4:c.3379_3380del
  • NM_014780.4:c.3379_3380delTG
Protein change:
W1126fs
Links:
OMIM: 609577.0006; dbSNP: rs730880262
NCBI 1000 Genomes Browser:
rs730880262
Molecular consequence:
  • NM_001168370.2:c.3475_3476del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001374872.1:c.3475_3476del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001374873.1:c.3379_3380del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001374874.1:c.3376_3377del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_014780.5:c.3379_3380del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000021841OMIM
no assertion criteria provided
Pathogenic
(Mar 1, 2009) 		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

A large-scale mutation search reveals genetic heterogeneity in 3M syndrome.

Huber C, Delezoide AL, Guimiot F, Baumann C, Malan V, Le Merrer M, Da Silva DB, Bonneau D, Chatelain P, Chu C, Clark R, Cox H, Edery P, Edouard T, Fano V, Gibson K, Gillessen-Kaesbach G, Giovannucci-Uzielli ML, Graul-Neumann LM, van Hagen JM, van Hest L, Horovitz D, et al.

Eur J Hum Genet. 2009 Mar;17(3):395-400. doi: 10.1038/ejhg.2008.200. Epub 2008 Oct 29.

PubMed [citation]
PMID:
19225462
PMCID:
PMC2986175

Details of each submission

From OMIM, SCV000021841.3

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

Description

In 2 unrelated patients with 3M syndrome-1 (3M1; 273750), Huber et al. (2009) identified a homozygous 2-bp deletion (3379_3380delTG) in exon 18 of the CUL7 gene, resulting in a frameshift and premature termination. Both patients were born of consanguineous parents, from India and Pakistan, respectively.

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

Last Updated: Sep 29, 2024