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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001475019	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Uncertain significance (Oct 10, 2019)	unknown	clinical testing	PubMed (2) [See all records that cite these PMIDs] 18425620, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001475019

Athena Diagnostics

criteria provided, single submitter

(Athena Diagnostics Criteria)

Uncertain significance
(Oct 10, 2019)

unknown

clinical testing

PubMed (2)
[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	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 7, 2024

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