NM_001127392.3(MYRF):c.1435C>G (p.Leu479Val) AND multiple conditions

Germline classification:: Likely pathogenic (1 submission)
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV001291141.1

Allele description [Variation Report for NM_001127392.3(MYRF):c.1435C>G (p.Leu479Val)]

NM_001127392.3(MYRF):c.1435C>G (p.Leu479Val)

Gene:

MYRF:myelin regulatory factor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q12.2

Genomic location:

Preferred name:

NM_001127392.3(MYRF):c.1435C>G (p.Leu479Val)

HGVS:

NC_000011.10:g.61776368C>G
NG_047038.1:g.28732C>G
NM_001127392.3:c.1435C>GMANE SELECT
NM_013279.4:c.1408C>G
NP_001120864.1:p.Leu479Val
NP_037411.1:p.Leu470Val
NC_000011.9:g.61543840C>G
NM_001127392.2:c.1435C>G

Protein change:

L470V

Links:

dbSNP: rs2066382188

NCBI 1000 Genomes Browser:

rs2066382188

Molecular consequence:

NM_001127392.3:c.1435C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_013279.4:c.1408C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Heart, malformation of
Identifiers:: MONDO: MONDO:0009327; MeSH: D006330; MedGen: CN130023; OMIM: 140500; OMIM: 234750

Name:: Abnormality of the genitourinary system
Identifiers:: MedGen: C0042063; Human Phenotype Ontology: HP:0000119

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
SCV001479517	University of Washington Center for Mendelian Genomics, University of Washington	no assertion criteria provided	Likely pathogenic	de novo	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001479517

University of Washington Center for Mendelian Genomics, University of Washington

no assertion criteria provided

Likely pathogenic

de novo

research

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders.

Qi H, Yu L, Zhou X, Wynn J, Zhao H, Guo Y, Zhu N, Kitaygorodsky A, Hernan R, Aspelund G, Lim FY, Crombleholme T, Cusick R, Azarow K, Danko ME, Chung D, Warner BW, Mychaliska GB, Potoka D, Wagner AJ, ElFiky M, Wilson JM, et al.

PLoS Genet. 2018 Dec;14(12):e1007822. doi: 10.1371/journal.pgen.1007822.

PubMed [citation]

PMID:: 30532227
PMCID:: PMC6301721

Details of each submission

From University of Washington Center for Mendelian Genomics, University of Washington, SCV001479517.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (1)

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

Last Updated: Oct 21, 2023

ClinVar

Relating variation to medicine