NM_014874.4(MFN2):c.754A>G (p.Asn252Asp) AND Auditory neuropathy

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Dec 22, 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:: RCV003484473.1

Allele description [Variation Report for NM_014874.4(MFN2):c.754A>G (p.Asn252Asp)]

NM_014874.4(MFN2):c.754A>G (p.Asn252Asp)

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.754A>G (p.Asn252Asp)

HGVS:

NC_000001.11:g.11999033A>G
NG_007945.1:g.23853A>G
NM_001127660.2:c.754A>G
NM_014874.4:c.754A>GMANE SELECT
NP_001121132.1:p.Asn252Asp
NP_055689.1:p.Asn252Asp
NP_055689.1:p.Asn252Asp
LRG_255t1:c.754A>G
LRG_255:g.23853A>G
LRG_255p1:p.Asn252Asp
NC_000001.10:g.12059090A>G
NM_014874.3:c.754A>G

Protein change:

N252D

Molecular consequence:

NM_001127660.2:c.754A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_014874.4:c.754A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Auditory neuropathy
Synonyms:: Auditory dys-synchrony
Identifiers:: MONDO: MONDO:0021944; MedGen: C1852271; OMIM: PS609129

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004229006	WangQJ Lab, Chinese People's Liberation Army General Hospital	criteria provided, single submitter (Submitter's publication)	Likely pathogenic (Dec 22, 2023)	germline	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004229006

WangQJ Lab, Chinese People's Liberation Army General Hospital

criteria provided, single submitter

(Submitter's publication)

Likely pathogenic
(Dec 22, 2023)

germline

research

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Asian	germline	yes	1	not provided	not provided	not provided	not provided	research

Details of each submission

From WangQJ Lab, Chinese People's Liberation Army General Hospital, SCV004229006.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Feb 4, 2024

ClinVar

Relating variation to medicine