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

Germline classification:: Conflicting interpretations of pathogenicity (3 submissions)
Last evaluated:: Dec 13, 2022
Review status:: criteria provided, conflicting classifications

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:: RCV002224395.8

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]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002503030	AiLife Diagnostics, AiLife Diagnostics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Nov 19, 2021)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 21378087, 25741868
SCV002765199	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely pathogenic (Dec 13, 2022)	germline	clinical testing	Citation Link,
SCV003814912	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Dec 29, 2021)	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

SCV002503030

AiLife Diagnostics, AiLife Diagnostics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Nov 19, 2021)

germline

clinical testing

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

SCV002765199

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely pathogenic
(Dec 13, 2022)

germline

clinical testing

Citation Link,

SCV003814912

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Dec 29, 2021)

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
not provided	germline	yes	1	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

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From AiLife Diagnostics, AiLife Diagnostics, SCV002503030.1

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

#	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		1	not provided	not provided	not provided

From GeneDx, SCV002765199.1

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

Description

In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; This variant is associated with the following publications: (PMID: 21378087, 27573238, 15579781, 30086540)

#	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

From Revvity Omics, Revvity, SCV003814912.2

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

#	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

ClinVar

Relating variation to medicine