U.S. flag

An official website of the United States government

NM_017613.4(DONSON):c.48del (p.Glu17fs) AND Meier-Gorlin syndrome 1

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jul 6, 2021
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:
RCV001533010.2

Allele description [Variation Report for NM_017613.4(DONSON):c.48del (p.Glu17fs)]

NM_017613.4(DONSON):c.48del (p.Glu17fs)

Gene:
DONSON:DNA replication fork stabilization factor DONSON [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
21q22.11
Genomic location:
Preferred name:
NM_017613.4(DONSON):c.48del (p.Glu17fs)
HGVS:
  • NC_000021.9:g.33588596del
  • NM_017613.4:c.48delMANE SELECT
  • NP_060083.1:p.Glu17fs
  • NC_000021.8:g.34960902del
  • NM_017613.3:c.48delC
Protein change:
E17fs
Links:
dbSNP: rs2145910302
NCBI 1000 Genomes Browser:
rs2145910302
Molecular consequence:
  • NM_017613.4:c.48del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Meier-Gorlin syndrome 1 (MGORS1)
Synonyms:
Microtia, absent patellae, micrognathia syndrome; EAR, PATELLA, SHORT STATURE SYNDROME
Identifiers:
MONDO: MONDO:0009143; MedGen: C4552001; Orphanet: 2554; OMIM: 224690

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001745224Institute of Human Genetics, University of Goettingen
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely pathogenic
(Jul 6, 2021)
maternalclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyesnot providednot 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 Institute of Human Genetics, University of Goettingen, SCV001745224.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providedclinical testing PubMed (1)

Description

found in compound heterozygosity with a variant of unknown significance

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 30, 2024