NM_000530.8(MPZ):c.389A>G (p.Lys130Arg) AND not provided

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Jan 31, 2017
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:: RCV000516461.17

Allele description [Variation Report for NM_000530.8(MPZ):c.389A>G (p.Lys130Arg)]

NM_000530.8(MPZ):c.389A>G (p.Lys130Arg)

Gene:

MPZ:myelin protein zero [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q23.3

Genomic location:

Preferred name:

NM_000530.8(MPZ):c.389A>G (p.Lys130Arg)

HGVS:

NC_000001.11:g.161306767T>C
NG_008055.1:g.8206A>G
NM_000530.8:c.389A>GMANE SELECT
NM_001315491.2:c.389A>G
NP_000521.2:p.Lys130Arg
NP_001302420.1:p.Lys130Arg
LRG_256t1:c.389A>G
LRG_256:g.8206A>G
LRG_256p1:p.Lys130Arg
NC_000001.10:g.161276557T>C
NM_000530.5:c.419A>G
NM_000530.6:c.389A>G
P25189:p.Lys130Arg

Protein change:

K130R

Links:

UniProtKB: P25189#VAR_004534; dbSNP: rs281865127

NCBI 1000 Genomes Browser:

rs281865127

Molecular consequence:

NM_000530.8:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001315491.2:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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NADH dehydrogenase subunit 4 (mitochondrion) [Gasterosteus aculeatus]
NADH dehydrogenase subunit 4 (mitochondrion) [Gasterosteus aculeatus]
gi|1600726842|ref|YP_009568259.1|

Protein
H.sapiens mRNA for TGN46 protein
H.sapiens mRNA for TGN46 protein
gi|1518268|emb|X94333.1|

Nucleotide
UNVERIFIED: Drosophila mercatorum patched-like gene, partial sequence
UNVERIFIED: Drosophila mercatorum patched-like gene, partial sequence
gi|2086094800|gb|MW442354.1|

Nucleotide
Saprolegnia torulosa strain B6-C2 internal transcribed spacer 2 and 28S ribosoma...
Saprolegnia torulosa strain B6-C2 internal transcribed spacer 2 and 28S ribosomal RNA gene, partial sequence
gi|523584205|gb|KC758892.1|

Nucleotide
Ostertagia ostertagi
Ostertagia ostertagi
Ostertagia ostertagi Genome Sequencing

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000614108	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Pathogenic (Jan 31, 2017)	germline	clinical testing	PubMed (9) [See all records that cite these PMIDs] 27353517, 26310628, 26454100, 10923043, 8797476, 8938258, 12477701, 14711881, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000614108

Athena Diagnostics

criteria provided, single submitter

(Athena Diagnostics Criteria)

Pathogenic
(Jan 31, 2017)

germline

clinical testing

PubMed (9)
[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	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Next-generation sequencing-based molecular diagnosis of neonatal hypotonia in Chinese Population.

Wang Y, Peng W, Guo HY, Li H, Tian J, Shi YJ, Yang X, Yang Y, Zhang WQ, Liu X, Liu GN, Deng T, Sun YM, Xing WL, Cheng J, Feng ZC.

Sci Rep. 2016 Jun 29;6:29088. doi: 10.1038/srep29088.

PubMed [citation]

PMID:: 27353517
PMCID:: PMC4926250

Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene.

Sanmaneechai O, Feely S, Scherer SS, Herrmann DN, Burns J, Muntoni F, Li J, Siskind CE, Day JW, Laura M, Sumner CJ, Lloyd TE, Ramchandren S, Shy RR, Grider T, Bacon C, Finkel RS, Yum SW, Moroni I, Piscosquito G, Pareyson D, Reilly MM, et al.

Brain. 2015 Nov;138(Pt 11):3180-92. doi: 10.1093/brain/awv241. Epub 2015 Aug 25.

PubMed [citation]

PMID:: 26310628
PMCID:: PMC4643641

See all PubMed Citations (9)

Details of each submission

From Eurofins Ntd Llc (ga), SCV000228899.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (2)

#	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		1	not provided	not provided	not provided

From Athena Diagnostics, SCV000614108.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (9)

#	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

Flagged submissions

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000228899	Eurofins Ntd Llc (ga)	flagged submission Reason: Older and outlier claim with insufficient supporting evidence Notes: None (EGL Classification Definitions 2015)	Uncertain significance (Apr 2, 2015)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 10923043, 8938258 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000228899

Eurofins Ntd Llc (ga)

flagged submission

Reason: Older and outlier claim with insufficient supporting evidence

Notes: None

(EGL Classification Definitions 2015)

Uncertain significance
(Apr 2, 2015)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Last Updated: Oct 26, 2024

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