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NM_014874.4(MFN2):c.1143GGC[1] (p.Ala383del) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 21, 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:
RCV000515554.2

Allele description

NM_014874.4(MFN2):c.1143GGC[1] (p.Ala383del)

Gene:
MFN2:mitofusin 2 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
1p36.22
Genomic location:
Preferred name:
NM_014874.4(MFN2):c.1143GGC[1] (p.Ala383del)
HGVS:
  • NC_000001.11:g.12002086GGC[1]
  • NG_007945.1:g.26906GGC[1]
  • NM_001127660.2:c.1143GGC[1]
  • NM_014874.4:c.1143GGC[1]MANE SELECT
  • NP_001121132.1:p.Ala383del
  • NP_055689.1:p.Ala383del
  • LRG_255:g.26906GGC[1]
  • NC_000001.10:g.12062143GGC[1]
  • NM_014874.3:c.1146_1148del
Protein change:
A383del
Links:
dbSNP: rs1553144065
NCBI 1000 Genomes Browser:
rs1553144065
Molecular consequence:
  • NM_001127660.2:c.1143GGC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_014874.4:c.1143GGC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
Functional consequence:
variation affecting protein [Variation Ontology: 0002]

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
Name:
Hereditary motor and sensory neuropathy with optic atrophy
Synonyms:
CHARCOT-MARIE-TOOTH DISEASE, TYPE 6; PERIPHERAL NEUROPATHY AND OPTIC ATROPHY
Identifiers:
MONDO: MONDO:0019551; MedGen: C0393807
Name:
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;
Synonyms:
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B; Charcot-Marie-Tooth disease, axonal, type 2A2B
Identifiers:
MONDO: MONDO:0014906; MedGen: C4310725; OMIM: 617087

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000611626Department Of Genetics, Lifeline Super Speciality Hospital, Adoor.
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Sep 21, 2017) 		somaticclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Department Of Genetics, Lifeline Super Speciality Hospital, Adoor., SCV000611626.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providedclinical testing PubMed (1)

Description

The patient is with clinical indications of distal sensory neuropathy, neuropathic tremor, bilateral pyramidal signs, and MRI revealed lacunar infarct trigone. Patient was diagnosed to be affected with hereditary sensory motor neuropathy type 5 and has been evaluated for pathogenic variations in the gene MFN2. A heterozygous three base pair deletion in exon 11 of the MFN2 gene (chr1:12062143_12062145delGGC) that results in an in-frame deletion of amino acid Alanine at codon 383 (p.Ala383del;ENST00000235329) was detected.

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

Last Updated: Jun 10, 2023