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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:
1

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001448990Knight Diagnostic Laboratories, Oregon Health and Sciences University
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jul 26, 2017) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical 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

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024