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NM_014874.4(MFN2):c.950C>G (p.Ala317Gly) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 9, 2023
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:
RCV004031409.1

Allele description [Variation Report for NM_014874.4(MFN2):c.950C>G (p.Ala317Gly)]

NM_014874.4(MFN2):c.950C>G (p.Ala317Gly)

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.950C>G (p.Ala317Gly)
HGVS:
  • NC_000001.11:g.12001534C>G
  • NG_007945.1:g.26354C>G
  • NM_001127660.2:c.950C>G
  • NM_014874.4:c.950C>GMANE SELECT
  • NP_001121132.1:p.Ala317Gly
  • NP_055689.1:p.Ala317Gly
  • LRG_255t1:c.950C>G
  • LRG_255:g.26354C>G
  • NC_000001.10:g.12061591C>G
  • NM_014874.3:c.950C>G
Protein change:
A317G
Links:
dbSNP: rs1639173341
NCBI 1000 Genomes Browser:
rs1639173341
Molecular consequence:
  • NM_001127660.2:c.950C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014874.4:c.950C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004904618Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Nov 9, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV004904618.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.950C>G (p.A317G) alteration is located in exon 9 (coding exon 7) of the MFN2 gene. This alteration results from a C to G substitution at nucleotide position 950, causing the alanine (A) at amino acid position 317 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024