NM_000352.6(ABCC8):c.1531C>G (p.Leu511Val) AND Hyperinsulinemic hypoglycemia, familial, 1

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 9, 2021
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:: RCV001810548.5

Allele description [Variation Report for NM_000352.6(ABCC8):c.1531C>G (p.Leu511Val)]

NM_000352.6(ABCC8):c.1531C>G (p.Leu511Val)

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.1531C>G (p.Leu511Val)

HGVS:

NC_000011.10:g.17442819G>C
NG_008867.1:g.39084C>G
NM_000352.6:c.1531C>GMANE SELECT
NM_001287174.3:c.1531C>G
NM_001351295.2:c.1531C>G
NM_001351296.2:c.1528C>G
NM_001351297.2:c.1528C>G
NP_000343.2:p.Leu511Val
NP_001274103.1:p.Leu511Val
NP_001338224.1:p.Leu511Val
NP_001338225.1:p.Leu510Val
NP_001338226.1:p.Leu510Val
LRG_790t1:c.1531C>G
LRG_790t2:c.1531C>G
LRG_790:g.39084C>G
LRG_790p1:p.Leu511Val
LRG_790p2:p.Leu511Val
NC_000011.9:g.17464366G>C
NR_147094.2:n.1597C>G

Protein change:

L510V

Links:

dbSNP: rs773345085

NCBI 1000 Genomes Browser:

rs773345085

Molecular consequence:

NM_000352.6:c.1531C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001287174.3:c.1531C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001351295.2:c.1531C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001351296.2:c.1528C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001351297.2:c.1528C>G - missense variant - [Sequence Ontology: SO:0001583]
NR_147094.2:n.1597C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Hyperinsulinemic hypoglycemia, familial, 1 (HHF1)
Synonyms:: HYPERINSULINISM, FAMILIAL, WITH PANCREATIC NESIDIOBLASTOSIS; HYPOGLYCEMIA, HYPERINSULINEMIC, OF INFANCY; NESIDIOBLASTOSIS OF PANCREAS; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009734; MedGen: C2931832; Orphanet: 276575; Orphanet: 276598; OMIM: 256450

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002060132	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2021))	Uncertain significance (Nov 9, 2021)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002060132

Myriad Genetics, Inc.

criteria provided, single submitter

(Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2021))

Uncertain significance
(Nov 9, 2021)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Myriad Genetics, Inc., SCV002060132.2

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

Description

NM_000352.3(ABCC8):c.1531C>G(L511V) is a missense variant classified as a variant of uncertain significance in the context of familial hyperinsulinism, ABCC8-related. L511V has not been observed in cases with relevant disease. Functional assessments of this variant are not available in the literature. L511V has been observed in population frequency databases (gnomAD: NFE <0.001%). In summary, there is insufficient evidence to classify NM_000352.3(ABCC8):c.1531C>G(L511V) as pathogenic or benign. Please note: this variant was assessed in the context of healthy population screening.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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