NM_005581.5(BCAM):c.711C>A (p.Cys237Ter) AND BLOOD GROUP--LUTHERAN NULL

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 1, 2007
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:: RCV000000471.3

Allele description [Variation Report for NM_005581.5(BCAM):c.711C>A (p.Cys237Ter)]

NM_005581.5(BCAM):c.711C>A (p.Cys237Ter)

Gene:

BCAM:basal cell adhesion molecule (Lutheran blood group) [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.32

Genomic location:

Preferred name:

NM_005581.5(BCAM):c.711C>A (p.Cys237Ter)

HGVS:

NC_000019.10:g.44813547C>A
NG_007480.1:g.9467C>A
NM_001013257.2:c.711C>A
NM_005581.5:c.711C>AMANE SELECT
NP_001013275.1:p.Cys237Ter
NP_005572.2:p.Cys237Ter
LRG_798t2:c.711C>A
LRG_798:g.9467C>A
LRG_798p2:p.Cys237Ter
NC_000019.9:g.45316804C>A

Protein change:

C237*; CYS237TER

Links:

OMIM: 612773.0005; dbSNP: rs3810141

Molecular consequence:

NM_001013257.2:c.711C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_005581.5:c.711C>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: BLOOD GROUP--LUTHERAN NULL
Identifiers:: MedGen: C4017284

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000020620	OMIM	no assertion criteria provided	Pathogenic (Mar 1, 2007)	germline	literature only	PubMed (1) [See all records that cite this PMID] Mallinson, G., Green, C. A., Okubo, Y., Daniels, G. L. The molecular background of recessive Lu(a-b-) phenotype in a Japanese family. Transfusion Med. 7 (Suppl. 1): 18-only, 1997.

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000020620

OMIM

no assertion criteria provided

Pathogenic
(Mar 1, 2007)

germline

literature only

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

Mallinson, G., Green, C. A., Okubo, Y., Daniels, G. L. The molecular background of recessive Lu(a-b-) phenotype in a Japanese family. Transfusion Med. 7 (Suppl. 1): 18-only, 1997.

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

Different inactivating mutations in the LU genes of three individuals with the Lutheran-null phenotype.

Karamatic Crew V, Mallinson G, Green C, Poole J, Uchikawa M, Tani Y, Geisen C, Oldenburg J, Daniels G.

Transfusion. 2007 Mar;47(3):492-8.

PubMed [citation]

PMID:: 17319831

Details of each submission

From OMIM, SCV000020620.2

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

Description

In a healthy Japanese man with the Lutheran null blood group phenotype (247420), Mallinson et al. (1997) identified a homozygous 733C-A transversion in exon 6 of the BCAM gene, resulting in a cys237-to-ter (C237X) substitution in the extracellular domain. He was identified through blood donation and had no phenotypic manifestations. His parents and brother were heterozygous for the mutation. Karamatic Crew et al. (2007) stated that the C237X substitution resulted from a 711C-A transversion based on numbering from the translation initiation ATG codon.

#	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: Apr 23, 2022

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