NM_001256007.3(PNPLA8):c.2275_2276del (p.Leu759fs) AND Mitochondrial myopathy-lactic acidosis-deafness syndrome

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 1, 2015
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:: RCV000170362.4

Allele description

NM_001256007.3(PNPLA8):c.2275_2276del (p.Leu759fs)

Gene:

PNPLA8:patatin like phospholipase domain containing 8 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

7q31.1

Genomic location:

Preferred name:

NM_001256007.3(PNPLA8):c.2275_2276del (p.Leu759fs)

HGVS:

NC_000007.14:g.108472474AG[1]
NG_042172.1:g.60685CT[1]
NM_001256007.3:c.2275_2276delMANE SELECT
NM_001256008.3:c.2275_2276del
NM_001256009.3:c.2089_2090del
NM_001256010.3:c.1975_1976del
NM_001256011.3:c.1975_1976del
NM_015723.5:c.2275_2276del
NP_001242936.1:p.Leu759fs
NP_001242937.1:p.Leu759fs
NP_001242938.1:p.Leu697fs
NP_001242939.1:p.Leu659fs
NP_001242940.1:p.Leu659fs
NP_056538.1:p.Leu759fs
NC_000007.13:g.108112918AG[1]
NC_000007.13:g.108112918_108112919del
NM_001256011.2:c.1975_1976del
NM_015723.4:c.2275_2276delCT

Protein change:

L659fs

Links:

OMIM: 612123.0002; dbSNP: rs774184465

NCBI 1000 Genomes Browser:

rs774184465

Molecular consequence:

NM_001256007.3:c.2275_2276del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001256008.3:c.2275_2276del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001256009.3:c.2089_2090del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001256010.3:c.1975_1976del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001256011.3:c.1975_1976del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_015723.5:c.2275_2276del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Mitochondrial myopathy-lactic acidosis-deafness syndrome
Synonyms:: Mitochondrial myopathy with lactic acidosis; Metabolic myopathy associated with chronic lactic acidemia, growth failure, and nerve deafness
Identifiers:: MONDO: MONDO:0016825; MedGen: C1855033; OMIM: 251950

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000222771	OMIM	no assertion criteria provided	Pathogenic (Mar 1, 2015)	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

SCV000222771

OMIM

no assertion criteria provided

Pathogenic
(Mar 1, 2015)

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

Loss of function variants in human PNPLA8 encoding calcium-independent phospholipase A2 γ recapitulate the mitochondriopathy of the homologous null mouse.

Saunders CJ, Moon SH, Liu X, Thiffault I, Coffman K, LePichon JB, Taboada E, Smith LD, Farrow EG, Miller N, Gibson M, Patterson M, Kingsmore SF, Gross RW.

Hum Mutat. 2015 Mar;36(3):301-6. doi: 10.1002/humu.22743. Erratum in: Hum Mutat. 2015 Jun;36(6):656.

PubMed [citation]

PMID:: 25512002
PMCID:: PMC4361307

Details of each submission

From OMIM, SCV000222771.2

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

Description

For discussion of the c.1975delCT (c.1975delCT, NM_001256011.1) frameshift mutation in the PNPLA8 gene that was found in compound heterozygous state in a patient with mitochondrial myopathy with lactic acidosis (MMLA; 251950) by Saunders et al. (2015), see 612123.0001.

#	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: Feb 7, 2023

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