NM_194318.4(B3GLCT):c.347+5G>A AND Peters plus syndrome

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Sep 1, 2006
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:: RCV000001327.4

Allele description [Variation Report for NM_194318.4(B3GLCT):c.347+5G>A]

NM_194318.4(B3GLCT):c.347+5G>A

Gene:

B3GLCT:beta 3-glucosyltransferase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

13q12.3

Genomic location:

Preferred name:

NM_194318.4(B3GLCT):c.347+5G>A

Other names:

B3GALTL, IVS5, G-A, +5

HGVS:

NC_000013.11:g.31247104G>A
NG_011732.2:g.52130G>A
NM_194318.4:c.347+5G>AMANE SELECT
NC_000013.10:g.31821241G>A
NG_011732.1:g.52130G>A
NM_194318.3:c.347+5G>A

Nucleotide change:

IVS5, G-A, +5

Links:

OMIM: 610308.0002; dbSNP: rs80338850

NCBI 1000 Genomes Browser:

rs80338850

Molecular consequence:

NM_194318.4:c.347+5G>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Peters plus syndrome
Synonyms:: KRAUSE-KIVLIN SYNDROME
Identifiers:: MONDO: MONDO:0009856; MedGen: C0796012; Orphanet: 709; OMIM: 261540

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000021477	OMIM	no assertion criteria provided	Pathogenic (Sep 1, 2006)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV000041736	GeneReviews	no classification provided	not provided	unknown	literature only	PubMed (2) [See all records that cite these PMIDs] 16909395, 20301637

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000021477

OMIM

no assertion criteria provided

Pathogenic
(Sep 1, 2006)

germline

literature only

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

SCV000041736

GeneReviews

no classification provided

not provided

unknown

literature only

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

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	not provided	not provided	literature only
not provided	unknown	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase.

Lesnik Oberstein SA, Kriek M, White SJ, Kalf ME, Szuhai K, den Dunnen JT, Breuning MH, Hennekam RC.

Am J Hum Genet. 2006 Sep;79(3):562-6. Epub 2006 Jul 19. Erratum in: Am J Hum Genet. 2006 Nov;79(5):985.

PubMed [citation]

PMID:: 16909395
PMCID:: PMC1559553

Peters Plus Syndrome..

Lesnik Oberstein SAJ, Ruivenkamp CAL, Hennekam RC.

2007 Oct 8 [updated 2025 Jan 30]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025.

PubMed [citation]

PMID:: 20301637

Details of each submission

From OMIM, SCV000021477.2

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

Description

In 2 Dutch sibs with Peters-plus syndrome (PTRPLS; 261540), Lesnik Oberstein et al. (2006) found compound heterozygosity for the 660+1G-A mutation (610308.0001) and for another donor splice site mutation, 347+5G-A, in the B3GALTL gene.

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

From GeneReviews, SCV000041736.2

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

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

Last Updated: May 16, 2025

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