NM_001497.4(B4GALT1):c.1055A>G (p.Asn352Ser) AND Combined low LDL and fibrinogen

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 16, 2023
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:: RCV003228703.1

Allele description [Variation Report for NM_001497.4(B4GALT1):c.1055A>G (p.Asn352Ser)]

NM_001497.4(B4GALT1):c.1055A>G (p.Asn352Ser)

Gene:

B4GALT1:beta-1,4-galactosyltransferase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9p21.1

Genomic location:

Preferred name:

NM_001497.4(B4GALT1):c.1055A>G (p.Asn352Ser)

Other names:

B4GALT1, ASN352SER (rs551564683); N352S

HGVS:

NC_000009.12:g.33113783T>C
NG_008919.1:g.58576A>G
NG_008919.2:g.76306A>G
NM_001378495.1:c.1016A>G
NM_001378496.1:c.932A>G
NM_001378497.1:c.649-9002A>G
NM_001497.4:c.1055A>GMANE SELECT
NP_001365424.1:p.Asn339Ser
NP_001365425.1:p.Asn311Ser
NP_001488.2:p.Asn352Ser
NC_000009.11:g.33113781T>C
NM_001497.3:c.1055A>G

Protein change:

N311S; ASN352SER

Links:

OMIM: 137060.0004

Molecular consequence:

NM_001378497.1:c.649-9002A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001378495.1:c.1016A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001378496.1:c.932A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001497.4:c.1055A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Combined low LDL and fibrinogen (CLDLFIB)
Identifiers:: MONDO: MONDO:0957260; MedGen: C5830484; OMIM: 620364

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003925480	OMIM	no assertion criteria provided	Pathogenic (May 16, 2023)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003925480

OMIM

no assertion criteria provided

Pathogenic
(May 16, 2023)

germline

literature only

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

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

Citations

PubMed

Genetic and functional evidence links a missense variant in B4GALT1 to lower LDL and fibrinogen.

Montasser ME, Van Hout CV, Miloscio L, Howard AD, Rosenberg A, Callaway M, Shen B, Li N, Locke AE, Verweij N, De T, Ferreira MA, Lotta LA, Baras A, Daly TJ, Hartford SA, Lin W, Mao Y, Ye B, White D, Gong G, Perry JA, et al.

Science. 2021 Dec 3;374(6572):1221-1227. doi: 10.1126/science.abe0348. Epub 2021 Dec 2.

PubMed [citation]

PMID:: 34855475

Details of each submission

From OMIM, SCV003925480.1

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

Description

Montasser et al. (2021) identified an association between an Amish-enriched asn352-to-ser (N352S) mutation in a functional domain of the B4GALT1 gene with low LDL cholesterol and plasma fibrinogen (CLDLFIB; 620364). The variant is located in the flexible long C-terminal region of the protein that undergoes conformational changes to allow for the exchange of the sugar molecule during glycosylation. Montasser et al. (2021) suggested that a mutation in this region may impede the necessary conformational change and effect glycosylation efficiency in the regulation of lipid metabolism and fibrinogen levels.

#	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

Last Updated: Dec 2, 2023

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