NM_002711.4(PPP1R3A):c.1985_1986del (p.Gln662fs) AND Insulin resistance, severe, digenic

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 1, 2002
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV002280818.1

Allele description [Variation Report for NM_002711.4(PPP1R3A):c.1985_1986del (p.Gln662fs)]

NM_002711.4(PPP1R3A):c.1985_1986del (p.Gln662fs)

Gene:

PPP1R3A:protein phosphatase 1 regulatory subunit 3A [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

7q31.1

Genomic location:

Preferred name:

NM_002711.4(PPP1R3A):c.1985_1986del (p.Gln662fs)

HGVS:

NC_000007.14:g.113879106_113879107del
NG_012116.1:g.44921_44922del
NM_002711.4:c.1985_1986delMANE SELECT
NP_002702.2:p.Gln662fs
NC_000007.13:g.113519161_113519162del
NM_002711.3:c.1985_1986del

Protein change:

Q662fs

Links:

OMIM: 600917.0003; dbSNP: rs527638422

NCBI 1000 Genomes Browser:

rs527638422

Molecular consequence:

NM_002711.4:c.1985_1986del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Insulin resistance, severe, digenic
Identifiers:: MedGen: C4016701

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000029462	OMIM	no assertion criteria provided	Pathogenic (Aug 1, 2002)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000029462

OMIM

no assertion criteria provided

Pathogenic
(Aug 1, 2002)

germline

literature only

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	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Digenic inheritance of severe insulin resistance in a human pedigree.

Savage DB, Agostini M, Barroso I, Gurnell M, Luan J, Meirhaeghe A, Harding AH, Ihrke G, Rajanayagam O, Soos MA, George S, Berger D, Thomas EL, Bell JD, Meeran K, Ross RJ, Vidal-Puig A, Wareham NJ, O'Rahilly S, Chatterjee VK, Schafer AJ.

Nat Genet. 2002 Aug;31(4):379-84. Epub 2002 Jul 15. Erratum in: Nat Genet 2002 Sep;32(1):211.

PubMed [citation]

PMID:: 12118251

Details of each submission

From OMIM, SCV000029462.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a 'Europid family' with digenic inheritance of severe insulin resistance and type II diabetes mellitus (125853), the heterozygous PPP1R3 mutation found by Savage et al. (2002) was deletion of AG at 2 bp following 1984C, leading to a frameshift in codon 662 and a premature stop at codon 668. The grandmother and 3 of her children and 2 grandchildren with severe insulin resistance had this mutation. In the 5 individuals with severe insulin resistance, this mutation was combined with heterozygosity at the PPARG locus (601487.0011).

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

Last Updated: Nov 18, 2024

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