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NM_000352.6(ABCC8):c.4411G>A (p.Asp1471Asn) AND ABCC8-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 10, 2020
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:
RCV004545752.1

Allele description [Variation Report for NM_000352.6(ABCC8):c.4411G>A (p.Asp1471Asn)]

NM_000352.6(ABCC8):c.4411G>A (p.Asp1471Asn)

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.4411G>A (p.Asp1471Asn)
Other names:
NM_000352.6(ABCC8):c.4411G>A; p.Asp1471Asn
HGVS:
  • NC_000011.10:g.17395172C>T
  • NG_008867.1:g.86731G>A
  • NM_000352.6:c.4411G>AMANE SELECT
  • NM_001287174.3:c.4414G>A
  • NM_001351295.2:c.4477G>A
  • NM_001351296.2:c.4411G>A
  • NM_001351297.2:c.4408G>A
  • NP_000343.2:p.Asp1471Asn
  • NP_001274103.1:p.Asp1472Asn
  • NP_001338224.1:p.Asp1493Asn
  • NP_001338225.1:p.Asp1471Asn
  • NP_001338226.1:p.Asp1470Asn
  • LRG_790t1:c.4411G>A
  • LRG_790t2:c.4414G>A
  • LRG_790:g.86731G>A
  • LRG_790p1:p.Asp1471Asn
  • LRG_790p2:p.Asp1472Asn
  • NC_000011.9:g.17416719C>T
  • NM_000352.3:c.4411G>A
  • NM_000352.4:c.4411G>A
  • NM_000352.5:c.4411G>A
  • NR_147094.2:n.4706G>A
Protein change:
D1470N
Links:
dbSNP: rs72559716
NCBI 1000 Genomes Browser:
rs72559716
Molecular consequence:
  • NM_000352.6:c.4411G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001287174.3:c.4414G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351295.2:c.4477G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351296.2:c.4411G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351297.2:c.4408G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_147094.2:n.4706G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
ABCC8-related disorder
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001984815Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Aug 10, 2020) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

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 Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego, SCV001984815.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant has been previously reported as a heterozygous and compound heterozygous change in patients with ABCC8-related disorders (PMID: 30352420, 24616771, 23345197, 20685672, 18988933, 17466004, 15562009, 10720932). Functional characterization of the variant demonstrated loss of ATP-sensitive potassium channel function (PMID: 30354297). It is present in the heterozygous state in the gnomAD population database at a frequency of 0.002% (4/183574) and thus is presumed to be rare. The c.4411G>A (p.Asp1471Asn) variant is predicted by multiple in silico tools to have a deleterious effect on protein function. Based on the available evidence, the c.4411G>A (p.Asp1471Asn) variant is classified as Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 16, 2024