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NM_080605.4(B3GALT6):c.415_423del (p.Met139_Ala141del) AND Ehlers-Danlos syndrome, spondylodysplastic type, 2

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 6, 2013
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:
RCV000054400.5

Allele description [Variation Report for NM_080605.4(B3GALT6):c.415_423del (p.Met139_Ala141del)]

NM_080605.4(B3GALT6):c.415_423del (p.Met139_Ala141del)

Gene:
B3GALT6:beta-1,3-galactosyltransferase 6 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1p36.33
Genomic location:
Preferred name:
NM_080605.4(B3GALT6):c.415_423del (p.Met139_Ala141del)
Other names:
B3GALT6, 9-BP DEL, NT415; p.Met139_Ala141del
HGVS:
  • NC_000001.11:g.1232693_1232701del
  • NG_030007.1:g.4375_4383del
  • NG_033265.1:g.5445_5453del
  • NM_080605.4:c.415_423delMANE SELECT
  • NP_542172.2:p.Met139_Ala141del
  • LRG_1261t1:c.415_423del
  • LRG_1261:g.5445_5453del
  • LRG_1261p1:p.Met139_Ala141del
  • NC_000001.10:g.1168073_1168081del
  • NM_080605.3:c.415_423del
Links:
OMIM: 615291.0011; dbSNP: rs786200942
NCBI 1000 Genomes Browser:
rs786200942
Molecular consequence:
  • NM_080605.4:c.415_423del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:
Ehlers-Danlos syndrome, spondylodysplastic type, 2 (EDSSPD2)
Synonyms:
Ehlers-Danlos syndrome, progeroid type, 2
Identifiers:
MONDO: MONDO:0014139; MedGen: C3809210; Orphanet: 75496; OMIM: 615349

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000082877OMIM
no assertion criteria provided
Pathogenic
(Jun 6, 2013) 		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

Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders.

Nakajima M, Mizumoto S, Miyake N, Kogawa R, Iida A, Ito H, Kitoh H, Hirayama A, Mitsubuchi H, Miyazaki O, Kosaki R, Horikawa R, Lai A, Mendoza-Londono R, Dupuis L, Chitayat D, Howard A, Leal GF, Cavalcanti D, Tsurusaki Y, Saitsu H, Watanabe S, et al.

Am J Hum Genet. 2013 Jun 6;92(6):927-34. doi: 10.1016/j.ajhg.2013.04.003. Epub 2013 May 9.

PubMed [citation]
PMID:
23664117
PMCID:
PMC3675233

Details of each submission

From OMIM, SCV000082877.4

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

Description

For discussion of the 9-bp deletion in the B3GALT6 gene (c.415_423del) that was found in compound heterozygous state in a patient with spondylodysplastic Ehlers-Danlos syndrome-2 (EDSSPD2; 615349) by Nakajima et al. (2013), see 615291.0010.

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

Last Updated: Nov 24, 2024