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NM_005689.4(ABCB6):c.717G>A (p.Trp239Ter) AND Langereis blood group

Germline classification:
Affects (1 submission)
Last evaluated:
Jan 15, 2012
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:
RCV000023434.4

Allele description [Variation Report for NM_005689.4(ABCB6):c.717G>A (p.Trp239Ter)]

NM_005689.4(ABCB6):c.717G>A (p.Trp239Ter)

Gene:
ABCB6:ATP binding cassette subfamily B member 6 (LAN blood group) [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q35
Genomic location:
Preferred name:
NM_005689.4(ABCB6):c.717G>A (p.Trp239Ter)
Other names:
Q239*
HGVS:
  • NC_000002.12:g.219216803C>T
  • NG_032110.1:g.7188G>A
  • NM_001349828.2:c.579G>A
  • NM_005689.4:c.717G>AMANE SELECT
  • NP_001336757.1:p.Trp193Ter
  • NP_005680.1:p.Trp239Ter
  • LRG_824t1:c.717G>A
  • LRG_824:g.7188G>A
  • LRG_824p1:p.Trp239Ter
  • NC_000002.11:g.220081525C>T
  • NM_005689.3:c.717G>A
Note:
ClinGen staff contributed the HGVS expression for this variant.
Protein change:
W193*; GLN239TER
Links:
OMIM: 605452.0001; dbSNP: rs148458820
NCBI 1000 Genomes Browser:
rs148458820
Molecular consequence:
  • NM_001349828.2:c.579G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_005689.4:c.717G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Langereis blood group
Synonyms:
LANGEREIS BLOOD GROUP SYSTEM, LAN(-) PHENOTYPE
Identifiers:
MedGen: C3276339; OMIM: 111600

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000044725OMIM
no assertion criteria provided
Affects
(Jan 15, 2012)
germlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

ABCB6 is dispensable for erythropoiesis and specifies the new blood group system Langereis.

Helias V, Saison C, Ballif BA, Peyrard T, Takahashi J, Takahashi H, Tanaka M, Deybach JC, Puy H, Le Gall M, Sureau C, Pham BN, Le Pennec PY, Tani Y, Cartron JP, Arnaud L.

Nat Genet. 2012 Jan 15;44(2):170-3. doi: 10.1038/ng.1069.

PubMed [citation]
PMID:
22246506
PMCID:
PMC3664204

Details of each submission

From OMIM, SCV000044725.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a Belgian woman with the Lan(-) blood group phenotype (111600), Helias et al. (2012) identified a homozygous 717G-A transition in exon 3 of the ABCB6 gene, resulting in a gln239-to-ter (Q239X) substitution.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 20, 2024