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NM_007289.4(MME):c.769C>A (p.Arg257Ser) AND Autosomal recessive axonal hereditary motor and sensory neuropathy

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 26, 2018
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:
RCV000664251.1

Allele description [Variation Report for NM_007289.4(MME):c.769C>A (p.Arg257Ser)]

NM_007289.4(MME):c.769C>A (p.Arg257Ser)

Gene:
MME:membrane metalloendopeptidase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q25.2
Genomic location:
Preferred name:
NM_007289.4(MME):c.769C>A (p.Arg257Ser)
HGVS:
  • NC_000003.12:g.155138150C>A
  • NG_051105.1:g.119027C>A
  • NM_000902.5:c.769C>A
  • NM_001354642.2:c.769C>A
  • NM_001354643.1:c.769C>A
  • NM_007287.4:c.769C>A
  • NM_007288.3:c.769C>A
  • NM_007289.4:c.769C>AMANE SELECT
  • NP_000893.2:p.Arg257Ser
  • NP_001341571.1:p.Arg257Ser
  • NP_001341572.1:p.Arg257Ser
  • NP_009218.2:p.Arg257Ser
  • NP_009219.2:p.Arg257Ser
  • NP_009220.2:p.Arg257Ser
  • NC_000003.11:g.154855939C>A
Protein change:
R257S
Links:
dbSNP: rs145687755
NCBI 1000 Genomes Browser:
rs145687755
Molecular consequence:
  • NM_000902.5:c.769C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354642.2:c.769C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354643.1:c.769C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007287.4:c.769C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007288.3:c.769C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007289.4:c.769C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Autosomal recessive axonal hereditary motor and sensory neuropathy
Identifiers:
MedGen: C5680194

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000787819Institute of Human Genetics, Cologne University
no assertion criteria provided
Uncertain significance
(Apr 26, 2018) 		unknownclinical testing

Help

Summary from all submissions

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

Details of each submission

From Institute of Human Genetics, Cologne University, SCV000787819.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024