NM_000352.6(ABCC8):c.208G>A (p.Gly70Arg) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 2, 2024
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:: RCV004770424.1

Allele description [Variation Report for NM_000352.6(ABCC8):c.208G>A (p.Gly70Arg)]

NM_000352.6(ABCC8):c.208G>A (p.Gly70Arg)

Gene:

ABCC8:ATP binding cassette subfamily C member 8 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.1

Genomic location:

Preferred name:

NM_000352.6(ABCC8):c.208G>A (p.Gly70Arg)

HGVS:

NC_000011.10:g.17474968C>T
NG_008867.1:g.6935G>A
NM_000352.5:c.208G>A
NM_000352.6:c.208G>AMANE SELECT
NM_001287174.3:c.208G>A
NM_001351295.2:c.208G>A
NM_001351296.2:c.208G>A
NM_001351297.2:c.208G>A
NP_000343.2:p.Gly70Arg
NP_001274103.1:p.Gly70Arg
NP_001338224.1:p.Gly70Arg
NP_001338225.1:p.Gly70Arg
NP_001338226.1:p.Gly70Arg
LRG_790t1:c.208G>A
LRG_790t2:c.208G>A
LRG_790:g.6935G>A
LRG_790p1:p.Gly70Arg
LRG_790p2:p.Gly70Arg
NC_000011.9:g.17496515C>T
NM_000352.3:c.208G>A
NM_000352.4:c.208G>A
NM_000352.6:c.208G>A
NR_147094.2:n.277G>A

Protein change:

G70R

Links:

dbSNP: rs764349043

NCBI 1000 Genomes Browser:

rs764349043

Molecular consequence:

NM_000352.6:c.208G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001287174.3:c.208G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001351295.2:c.208G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001351296.2:c.208G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001351297.2:c.208G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_147094.2:n.277G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005381594	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Uncertain significance (Aug 2, 2024)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 21378087, 7908292 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005381594

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Uncertain significance
(Aug 2, 2024)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

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

The contribution of rapid KATP channel gene mutation analysis to the clinical management of children with congenital hyperinsulinism.

Banerjee I, Skae M, Flanagan SE, Rigby L, Patel L, Didi M, Blair J, Ehtisham S, Ellard S, Cosgrove KE, Dunne MJ, Clayton PE.

Eur J Endocrinol. 2011 May;164(5):733-40. doi: 10.1530/EJE-10-1136. Epub 2011 Mar 4.

PubMed [citation]

PMID:: 21378087

On the role of groES in the chaperonin-assisted folding reaction. Three case studies.

Schmidt M, Buchner J, Todd MJ, Lorimer GH, Viitanen PV.

J Biol Chem. 1994 Apr 8;269(14):10304-11.

PubMed [citation]

PMID:: 7908292

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV005381594.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

Variant summary: ABCC8 c.208G>A (p.Gly70Arg) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 2e-05 in 251384 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.208G>A has been reported in the literature in at-least one individual affected with Congenital Hyperinsulinism (example: Salomon-Estebanez_2016) . These data do not allow any conclusion about variant significance. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 21378087, 7908292). ClinVar contains an entry for this variant (Variation ID: 1677653). Based on the evidence outlined above, the variant was classified as 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: Nov 24, 2024

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