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NM_080605.4(B3GALT6):c.415_423del (p.Met139_Ala141del) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 11, 2023
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:
RCV004791251.1

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]
Observations:
1

Condition(s)

Synonyms:
none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005410633Mayo Clinic Laboratories, Mayo Clinic
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Oct 11, 2023) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

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

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 Mayo Clinic Laboratories, Mayo Clinic, SCV005410633.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (2)

Description

PP4, PM2, PM4

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Nov 30, 2024