NM_001127392.3(MYRF):c.1702del (p.Asp568fs) AND Cardiac-urogenital syndrome

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jan 1, 2022
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:: RCV002071033.1

Allele description [Variation Report for NM_001127392.3(MYRF):c.1702del (p.Asp568fs)]

NM_001127392.3(MYRF):c.1702del (p.Asp568fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

11q12.2

Genomic location:

Preferred name:

NM_001127392.3(MYRF):c.1702del (p.Asp568fs)

HGVS:

NC_000011.10:g.61777375del
NG_047038.1:g.29739del
NM_001127392.3:c.1702delMANE SELECT
NM_013279.4:c.1675del
NP_001120864.1:p.Asp568fs
NP_037411.1:p.Asp559fs
NC_000011.9:g.61544847del
NM_001127392.1:c.1702del

Protein change:

D559fs

Links:

dbSNP: rs2135840297

NCBI 1000 Genomes Browser:

rs2135840297

Molecular consequence:

NM_001127392.3:c.1702del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_013279.4:c.1675del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV002320856	Provincial Medical Genetics Program of British Columbia, University of British Columbia	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jan 1, 2022)	de novo	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002320856

Provincial Medical Genetics Program of British Columbia, University of British Columbia

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jan 1, 2022)

de novo

clinical testing

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	clinical 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 Provincial Medical Genetics Program of British Columbia, University of British Columbia, SCV002320856.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	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: Jul 15, 2024

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