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NM_014874.4(MFN2):c.2258dup (p.Gln754fs) AND Charcot-Marie-Tooth disease type 2A2

Germline classification:
Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:
Jan 26, 2020
Review status:
criteria provided, conflicting classifications
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:
RCV000986248.4

Allele description [Variation Report for NM_014874.4(MFN2):c.2258dup (p.Gln754fs)]

NM_014874.4(MFN2):c.2258dup (p.Gln754fs)

Gene:
MFN2:mitofusin 2 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
1p36.22
Genomic location:
Preferred name:
NM_014874.4(MFN2):c.2258dup (p.Gln754fs)
HGVS:
  • NC_000001.11:g.12011549dup
  • NG_007945.1:g.36369dup
  • NM_001127660.2:c.2258dup
  • NM_014874.4:c.2258dupMANE SELECT
  • NP_001121132.1:p.Gln754fs
  • NP_055689.1:p.Gln754fs
  • NP_055689.1:p.Gln754fs
  • LRG_255t1:c.2258dup
  • LRG_255:g.36369dup
  • LRG_255p1:p.Gln754fs
  • NC_000001.10:g.12071605_12071606insT
  • NC_000001.10:g.12071606dup
  • NM_001127660.1:c.2258dupT
  • NM_014874.3:c.2258dup
Protein change:
Q754fs
Links:
dbSNP: rs773371488
NCBI 1000 Genomes Browser:
rs773371488
Molecular consequence:
  • NM_001127660.2:c.2258dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_014874.4:c.2258dup - frameshift variant - [Sequence Ontology: SO:0001589]
Functional consequence:
protein truncation [Variation Ontology: 0015]
Observations:
1

Condition(s)

Name:
Charcot-Marie-Tooth disease type 2A2
Synonyms:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2; CHARCOT-MARIE-TOOTH DISEASE, NEURONAL, TYPE 2A2; HEREDITARY MOTOR AND SENSORY NEUROPATHY IIA2; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0012231; MedGen: C4721887; Orphanet: 99947; OMIM: 609260

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001135184Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2017)		Uncertain significance
(May 28, 2019) 		unknownclinical testing

Citation Link,

SCV001424047Istituto Neurologico Mediterraneo, Istituto di Ricovero e Cura a Carattere Scientifico
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jan 26, 2020) 		de novoclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing
Caucasiande novoyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Mendelics, SCV001135184.1

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

From Istituto Neurologico Mediterraneo, Istituto di Ricovero e Cura a Carattere Scientifico, SCV001424047.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Caucasian1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Feb 20, 2024