NM_005262.3(GFER):c.199del (p.Arg67fs) AND Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jul 26, 2017
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:: RCV001270124.3

Allele description [Variation Report for NM_005262.3(GFER):c.199del (p.Arg67fs)]

NM_005262.3(GFER):c.199del (p.Arg67fs)

Genes:

LOC130058203:ATAC-STARR-seq lymphoblastoid silent region 7014 [Gene]
GFER:growth factor, augmenter of liver regeneration [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

16p13.3

Genomic location:

Preferred name:

NM_005262.3(GFER):c.199del (p.Arg67fs)

HGVS:

NC_000016.10:g.1984417del
NG_016288.1:g.5269del
NM_005262.3:c.199delMANE SELECT
NP_005253.3:p.Arg67fs
NC_000016.9:g.2034416del
NC_000016.9:g.2034418del
NM_005262.2:c.199delC
p.R67fsX83

Protein change:

R67fs

Links:

dbSNP: rs863224028

NCBI 1000 Genomes Browser:

rs863224028

Molecular consequence:

NM_005262.3:c.199del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

Name:: Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
Synonyms:: MITOCHONDRIAL COMPLEX DEFICIENCY, COMBINED; Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay; Myopathy with cataract and combined respiratory-chain deficiency
Identifiers:: MONDO: MONDO:0013116; MedGen: C2751320; Orphanet: 330054; OMIM: 613076

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Neuronopathy, distal hereditary motor, type 7A
Neuronopathy, distal hereditary motor, type 7A

MedGen
Aurora Kinases
Aurora Kinases
A family of highly conserved serine-threonine kinases that are involved in the regulation of MITOSIS. They are involved in many aspects of cell division, including centrosome ...<br/>Year introduced: 2014

MeSH
Proto-Oncogene Proteins c-abl
Proto-Oncogene Proteins c-abl
Non-receptor tyrosine kinases encoded by the C-ABL GENES. They are distributed in both the cytoplasm and the nucleus. c-Abl plays a role in normal HEMATOPOIESIS especially of ...<br/>Year introduced: 1991

MeSH
Phosphotransferases (Alcohol Group Acceptor)
Phosphotransferases (Alcohol Group Acceptor)
A group of enzymes that transfers a phosphate group onto an alcohol group acceptor. EC 2.7.1.<br/>Year introduced: 1994

MeSH
Proto-Oncogene Proteins c-bcr
Proto-Oncogene Proteins c-bcr
A serine-threonine kinase that contains a C2 DOMAIN and PLECKSTRIN HOMOLOGY DOMAIN. It also has activity as a GTPASE-ACTIVATING PROTEIN for RAC1 PROTEIN and CDC42 PROTEIN. It ...<br/>Year introduced: 2006(1988)

MeSH

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001448990	Knight Diagnostic Laboratories, Oregon Health and Sciences University	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jul 26, 2017)	germline	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

SCV001448990

Knight Diagnostic Laboratories, Oregon Health and Sciences University

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jul 26, 2017)

germline

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	germline	unknown	1	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 Knight Diagnostic Laboratories, Oregon Health and Sciences University, SCV001448990.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	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	germline	unknown	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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