NM_022437.3(ABCG8):c.282A>C (p.Lys94Asn) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 14, 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:: RCV002599858.3

Allele description [Variation Report for NM_022437.3(ABCG8):c.282A>C (p.Lys94Asn)]

NM_022437.3(ABCG8):c.282A>C (p.Lys94Asn)

Gene:

ABCG8:ATP binding cassette subfamily G member 8 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p21

Genomic location:

Preferred name:

NM_022437.3(ABCG8):c.282A>C (p.Lys94Asn)

HGVS:

NC_000002.12:g.43846271A>C
NG_008884.2:g.19330A>C
NM_001357321.2:c.282A>C
NM_022437.3:c.282A>CMANE SELECT
NP_001344250.1:p.Lys94Asn
NP_071882.1:p.Lys94Asn
LRG_1182t1:c.282A>C
LRG_1182:g.19330A>C
LRG_1182p1:p.Lys94Asn
NC_000002.11:g.44073410A>C

Protein change:

K94N

Molecular consequence:

NM_001357321.2:c.282A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_022437.3:c.282A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Homo sapiens small nucleolar RNA, C/D box 88C (SNORD88C), small nucleolar RNA
Homo sapiens small nucleolar RNA, C/D box 88C (SNORD88C), small nucleolar RNA
gi|96974949|ref|NR_003069.1|

Nucleotide
ig30a03.y1 HR85 islet Homo sapiens cDNA 5', mRNA sequence
ig30a03.y1 HR85 islet Homo sapiens cDNA 5', mRNA sequence
gi|17926785|gnl|dbEST|10656838|gb|B 45.1|

Nucleotide
Criteria for Determining Disability in Infants and Children: Failure to Thrive
Criteria for Determining Disability in Infants and Children: Failure to Thrive

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003501474	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jul 14, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003501474

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jul 14, 2022)

germline

clinical testing

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003501474.2

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

Description

This variant is not present in population databases (gnomAD no frequency). This sequence change replaces lysine, which is basic and polar, with asparagine, which is neutral and polar, at codon 94 of the ABCG8 protein (p.Lys94Asn). This variant has not been reported in the literature in individuals affected with ABCG8-related conditions. 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive.

#	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: Sep 29, 2024

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