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NM_017613.3(DONSON):c.[1466A>C];[536_540delCACAG] AND Microcephaly, short stature, and limb abnormalities

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 15, 2018
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:
RCV000709615.6

Allele description [Variation Report for NM_017613.3(DONSON):c.[1466A>C];[536_540delCACAG]]

NM_017613.4(DONSON):c.1466A>C (p.Lys489Thr)

Gene:
DONSON:DNA replication fork stabilization factor DONSON [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
21q22.11
Genomic location:
Preferred name:
NM_017613.4(DONSON):c.1466A>C (p.Lys489Thr)
HGVS:
  • NC_000021.9:g.33579447T>G
  • NG_052981.1:g.41411T>G
  • NM_017613.4:c.1466A>CMANE SELECT
  • NP_060083.1:p.Lys489Thr
  • NC_000021.8:g.34951753T>G
  • NM_017613.2:c.1466A>C
  • NM_017613.3:c.1466A>C
Protein change:
K489T
Links:
OMIM: 611428.0004; dbSNP: rs146664036
NCBI 1000 Genomes Browser:
rs146664036
Molecular consequence:
  • NM_017613.4:c.1466A>C - missense variant - [Sequence Ontology: SO:0001583]

NM_017613.4(DONSON):c.536_540del (p.Ala179fs)

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.536_540del (p.Ala179fs)
HGVS:
  • NC_000021.9:g.33586046_33586050del
  • NM_017613.4:c.536_540delMANE SELECT
  • NP_060083.1:p.Ala179fs
  • NC_000021.8:g.34958352_34958356del
  • NM_017613.3:c.536_540delCACAG
Protein change:
A179fs
Links:
dbSNP: rs1569077147
NCBI 1000 Genomes Browser:
rs1569077147
Molecular consequence:
  • NM_017613.4:c.536_540del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Microcephaly, short stature, and limb abnormalities
Identifiers:
MONDO: MONDO:0060533; MedGen: C4539873; OMIM: 617604

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000747843Institute of Human Genetics, University of Goettingen
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(May 15, 2018) 		inheritedclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyes1not 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, SCV000747843.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jul 5, 2025