NM_001127392.3(MYRF):c.3118A>G (p.Arg1040Gly) AND Cardiac-urogenital syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 6, 2019
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:: RCV000786766.1

Allele description [Variation Report for NM_001127392.3(MYRF):c.3118A>G (p.Arg1040Gly)]

NM_001127392.3(MYRF):c.3118A>G (p.Arg1040Gly)

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.3118A>G (p.Arg1040Gly)

HGVS:

NC_000011.10:g.61783599A>G
NG_047038.1:g.35963A>G
NM_001127392.3:c.3118A>GMANE SELECT
NM_013279.4:c.2998A>G
NP_001120864.1:p.Arg1040Gly
NP_037411.1:p.Arg1000Gly
NC_000011.9:g.61551071A>G
NM_001127392.2:c.3118A>G

Protein change:

R1000G

Links:

dbSNP: rs1565307564

NCBI 1000 Genomes Browser:

rs1565307564

Molecular consequence:

NM_001127392.3:c.3118A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_013279.4:c.2998A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardiac-urogenital syndrome (CUGS)
Identifiers:: MONDO: MONDO:0032653; MedGen: C4748946; OMIM: 618280

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000924700	Daryl Scott Lab, Baylor College of Medicine	no assertion criteria provided	Pathogenic (Apr 6, 2019)	de novo	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000924700

Daryl Scott Lab, Baylor College of Medicine

no assertion criteria provided

Pathogenic
(Apr 6, 2019)

de novo

research

Help

Summary from all submissions

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

Details of each submission

From Daryl Scott Lab, Baylor College of Medicine, SCV000924700.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	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	de novo	yes	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Jan 7, 2023

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