NM_000352.6(ABCC8):c.4411G>A (p.Asp1471Asn) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 17, 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:: RCV001385864.9

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)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Gm47829 AND (alive[prop]) (0)
Gene

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
SCV001585867	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Oct 17, 2023)	germline	clinical testing	PubMed (5) [See all records that cite these PMIDs] 18988933, 30352420, 17466004, 30354297, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001585867

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Oct 17, 2023)

germline

clinical testing

PubMed (5)
[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

Case report: pathological features of aberrant pancreatic development in congenital hyperinsulinism due to ABCC8 mutations.

Brunetti-Pierri N, Olutoye OO, Heptulla R, Tatevian N.

Ann Clin Lab Sci. 2008 Autumn;38(4):386-9.

PubMed [citation]

PMID:: 18988933

Analysis on the pathogenic genes of 60 Chinese children with congenital hyperinsulinemia.

Xu ZD, Zhang W, Liu M, Wang HM, Hui PP, Liang XJ, Yan J, Wu YJ, Sang YM, Zhu C, Ni GC.

Endocr Connect. 2018 Nov 12;7(12):1251-1261. doi: 10.1530/EC-18-0240.

PubMed [citation]

PMID:: 30352420
PMCID:: PMC6240136

See all PubMed Citations (5)

Details of each submission

From Invitae, SCV001585867.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (5)

Description

This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 1471 of the ABCC8 protein (p.Asp1471Asn). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This missense change has been observed in individual(s) with congenital hyperinsulinism (PMID: 17466004, 18988933, 30352420, 30354297). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is also known as c.G4414A (p.D1472N). ClinVar contains an entry for this variant (Variation ID: 188931). 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 tolerated. Experimental studies have shown that this missense change affects ABCC8 function (PMID: 17466004, 30354297). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

#	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 16, 2024

ClinVar

Relating variation to medicine