NM_005689.4(ABCB6):c.2168G>A (p.Arg723Gln) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 4, 2023
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:: RCV001853258.5

Allele description [Variation Report for NM_005689.4(ABCB6):c.2168G>A (p.Arg723Gln)]

NM_005689.4(ABCB6):c.2168G>A (p.Arg723Gln)

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.2168G>A (p.Arg723Gln)

Other names:

ABCB6, ARG723GLN (rs148211042)

HGVS:

NC_000002.12:g.219210799C>T
NG_032110.1:g.13192G>A
NM_001349828.2:c.2030G>A
NM_005689.4:c.2168G>AMANE SELECT
NP_001336757.1:p.Arg677Gln
NP_005680.1:p.Arg723Gln
LRG_824t1:c.2168G>A
LRG_824:g.13192G>A
LRG_824p1:p.Arg723Gln
NC_000002.11:g.220075521C>T
NM_005689.2:c.2168G>A
Q9NP58:p.Arg723Gln

Protein change:

R677Q; ARG723GLN

Links:

UniProtKB: Q9NP58#VAR_076206; OMIM: 605452.0015; dbSNP: rs148211042

NCBI 1000 Genomes Browser:

rs148211042

Molecular consequence:

NM_001349828.2:c.2030G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_005689.4:c.2168G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002125206	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Aug 4, 2023)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 24947683, 27151991, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002125206

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Aug 4, 2023)

germline

clinical testing

PubMed (3)
[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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Familial pseudohyperkalemia in blood donors: a novel mutation with implications for transfusion practice.

Bawazir WM, Flatt JF, Wallis JP, Rendon A, Cardigan RA, New HV, Wiltshire M, Page L, Chapman CE, Stewart GW, Bruce LJ.

Transfusion. 2014 Dec;54(12):3043-50. doi: 10.1111/trf.12757. Epub 2014 Jun 19.

PubMed [citation]

PMID:: 24947683

Functional characterization of novel ABCB6 mutations and their clinical implications in familial pseudohyperkalemia.

Andolfo I, Russo R, Manna F, De Rosa G, Gambale A, Zouwail S, Detta N, Pardo CL, Alper SL, Brugnara C, Sharma AK, De Franceschi L, Iolascon A.

Haematologica. 2016 Aug;101(8):909-17. doi: 10.3324/haematol.2016.142372. Epub 2016 May 5.

PubMed [citation]

PMID:: 27151991
PMCID:: PMC4967569

See all PubMed Citations (3)

Details of each submission

From Invitae, SCV002125206.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 218181). This missense change has been observed in individual(s) with familial pseudohyperkalemia (PMID: 24947683, 27151991). This variant is present in population databases (rs148211042, gnomAD 0.1%), and has an allele count higher than expected for a pathogenic variant. This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 723 of the ABCB6 protein (p.Arg723Gln). Experimental studies have shown that this missense change affects ABCB6 function (PMID: 27151991). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Feb 20, 2024

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