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NM_000530.8(MPZ):c.51G>A (p.Leu17=) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Aug 14, 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:
RCV000612080.1

Allele description [Variation Report for NM_000530.8(MPZ):c.51G>A (p.Leu17=)]

NM_000530.8(MPZ):c.51G>A (p.Leu17=)

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.51G>A (p.Leu17=)
HGVS:
  • NC_000001.11:g.161309855C>T
  • NG_008055.1:g.5118G>A
  • NG_012767.1:g.480C>T
  • NM_000530.8:c.51G>AMANE SELECT
  • NM_001315491.2:c.51G>A
  • NP_000521.2:p.Leu17=
  • NP_001302420.1:p.Leu17=
  • LRG_256t1:c.51G>A
  • LRG_256:g.5118G>A
  • LRG_317:g.480C>T
  • NC_000001.10:g.161279645C>T
  • NM_000530.6:c.51G>A
Links:
dbSNP: rs149637045
NCBI 1000 Genomes Browser:
rs149637045
Molecular consequence:
  • NM_000530.8:c.51G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001315491.2:c.51G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000722041GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely benign
(Aug 14, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000722041.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024