NM_152490.5(B3GALNT2):c.308_309del (p.Val103fs) AND not provided

Germline classification:: not provided (1 submission)
Review status:: no classification 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:: RCV000119384.1

Allele description [Variation Report for NM_152490.5(B3GALNT2):c.308_309del (p.Val103fs)]

NM_152490.5(B3GALNT2):c.308_309del (p.Val103fs)

Gene:

B3GALNT2:beta-1,3-N-acetylgalactosaminyltransferase 2 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

1q42.3

Genomic location:

Preferred name:

NM_152490.5(B3GALNT2):c.308_309del (p.Val103fs)

Other names:

B3GALNT2, 2-BP DEL, NT308

HGVS:

NC_000001.11:g.235489220CA[1]
NG_033219.2:g.20259TG[1]
NM_001277155.3:c.431_432del
NM_152490.5:c.308_309delMANE SELECT
NP_001264084.1:p.Val144fs
NP_689703.1:p.Val103fs
NC_000001.10:g.235652525CA[1]
NP_689703.1:p.Val103Glyfs*10
p.(Val103Glyfs*10)

Protein change:

V103fs

Links:

OMIM: 610194.0003; dbSNP: rs367543070

NCBI 1000 Genomes Browser:

rs367543070

Molecular consequence:

NM_001277155.3:c.431_432del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_152490.5:c.308_309del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000154291	Leiden Muscular Dystrophy pages (B3GALNT2)	no classification provided	not provided	germline, unknown	not provided	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000154291

Leiden Muscular Dystrophy pages (B3GALNT2)

no classification provided

not provided

germline, unknown

not provided

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

Description

has functional consequence: SCV000154291

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	1	not provided	literature only
not provided	unknown	not provided	not provided	not provided	not provided	1	not provided	literature only

Citations

PubMed

Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan.

Stevens E, Carss KJ, Cirak S, Foley AR, Torelli S, Willer T, Tambunan DE, Yau S, Brodd L, Sewry CA, Feng L, Haliloglu G, Orhan D, Dobyns WB, Enns GM, Manning M, Krause A, Salih MA, Walsh CA, Hurles M, Campbell KP, Manzini MC; et al.

Am J Hum Genet. 2013 Mar 7;92(3):354-65. doi: 10.1016/j.ajhg.2013.01.016. Epub 2013 Feb 28.

PubMed [citation]

PMID:: 23453667
PMCID:: PMC3591840

Details of each submission

From Leiden Muscular Dystrophy pages (B3GALNT2), SCV000154291.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	not provided	PubMed (1)
2	not provided	not provided	not provided	not provided	not provided	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	1	not provided	not provided		not provided	not provided	not provided	not provided
2	unknown	not provided	1	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Mar 26, 2023

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