NM_005689.4(ABCB6):c.1533_1543dup (p.Leu515fs) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 27, 2022
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV003156699.1

Allele description [Variation Report for NM_005689.4(ABCB6):c.1533_1543dup (p.Leu515fs)]

NM_005689.4(ABCB6):c.1533_1543dup (p.Leu515fs)

Gene:

ABCB6:ATP binding cassette subfamily B member 6 (Langereis blood group) [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

2q35

Genomic location:

Preferred name:

NM_005689.4(ABCB6):c.1533_1543dup (p.Leu515fs)

HGVS:

NC_000002.12:g.219213863_219213873dup
NG_032110.1:g.10120_10130dup
NM_001349828.2:c.1395_1405dup
NM_005689.4:c.1533_1543dupMANE SELECT
NP_001336757.1:p.Leu469fs
NP_005680.1:p.Leu515fs
LRG_824t1:c.1533_1543dup
LRG_824:g.10120_10130dup
LRG_824p1:p.Leu515fs
NC_000002.11:g.220078585_220078595dup
NM_005689.2:c.1533_1543dup

Protein change:

L469fs

Molecular consequence:

NM_001349828.2:c.1395_1405dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_005689.4:c.1533_1543dup - 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
SCV003845911	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Sep 27, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003845911

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Sep 27, 2022)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV003845911.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

Reported as an apparently homozygous finding in a patient with the blood group antigen Lan negative blood type (Helias et al., 2012); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene or region of a gene for which loss of function is not a well-established mechanism of disease; This variant is associated with the following publications: (PMID: 22246506)

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

Last Updated: Apr 1, 2023

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