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NM_014874.4(MFN2):c.1132T>C (p.Ser378Pro) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 10, 2019
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:
RCV001288127.2

Allele description [Variation Report for NM_014874.4(MFN2):c.1132T>C (p.Ser378Pro)]

NM_014874.4(MFN2):c.1132T>C (p.Ser378Pro)

Gene:
MFN2:mitofusin 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.22
Genomic location:
Preferred name:
NM_014874.4(MFN2):c.1132T>C (p.Ser378Pro)
HGVS:
  • NC_000001.11:g.12002075T>C
  • NG_007945.1:g.26895T>C
  • NM_001127660.2:c.1132T>C
  • NM_014874.4:c.1132T>CMANE SELECT
  • NP_001121132.1:p.Ser378Pro
  • NP_055689.1:p.Ser378Pro
  • NP_055689.1:p.Ser378Pro
  • LRG_255t1:c.1132T>C
  • LRG_255:g.26895T>C
  • LRG_255p1:p.Ser378Pro
  • NC_000001.10:g.12062132T>C
  • NM_014874.3:c.1132T>C
Protein change:
S378P
Links:
dbSNP: rs1569854381
NCBI 1000 Genomes Browser:
rs1569854381
Molecular consequence:
  • NM_001127660.2:c.1132T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014874.4:c.1132T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001475019Athena Diagnostics
criteria provided, single submitter

(Athena Diagnostics Criteria)
Uncertain significance
(Oct 10, 2019)
unknownclinical testing

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

Summary from all submissions

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

Citations

PubMed

Cerebral involvement in axonal Charcot-Marie-Tooth neuropathy caused by mitofusin2 mutations.

Brockmann K, Dreha-Kulaczewski S, Dechent P, Bönnemann C, Helms G, Kyllerman M, Brück W, Frahm J, Huehne K, Gärtner J, Rautenstrauss B.

J Neurol. 2008 Jul;255(7):1049-58. doi: 10.1007/s00415-008-0847-1. Epub 2008 Apr 21.

PubMed [citation]
PMID:
18425620

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From Athena Diagnostics, SCV001475019.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 7, 2024