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NM_001330311.2(DVL1):c.1690del (p.Ser564fs) AND Autosomal dominant Robinow syndrome 2

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Mar 26, 2015
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:
RCV000193819.3

Allele description [Variation Report for NM_001330311.2(DVL1):c.1690del (p.Ser564fs)]

NM_001330311.2(DVL1):c.1690del (p.Ser564fs)

Genes:
LOC129929114:ATAC-STARR-seq lymphoblastoid silent region 61 [Gene]
DVL1:dishevelled segment polarity protein 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1p36.33
Genomic location:
Preferred name:
NM_001330311.2(DVL1):c.1690del (p.Ser564fs)
HGVS:
  • NC_000001.11:g.1338001del
  • NG_008048.2:g.16112del
  • NM_001330311.2:c.1690delMANE SELECT
  • NM_004421.3:c.1615del
  • NP_001317240.1:p.Ser564fs
  • NP_004412.2:p.Ser539fs
  • NC_000001.10:g.1273381del
  • NG_008048.1:g.16112del
  • NM_004421.2:c.1615del
  • NP_004412.2:p.Ser539AlafsTer110
Protein change:
S539fs
Links:
dbSNP: rs797044837
NCBI 1000 Genomes Browser:
rs797044837
Molecular consequence:
  • NM_001330311.2:c.1690del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_004421.3:c.1615del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Autosomal dominant Robinow syndrome 2
Identifiers:
MONDO: MONDO:0014591; MedGen: C4225363; Orphanet: 3107; Orphanet: 97360; OMIM: 616331

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000243851GeneReviews
no classification provided
not providedgermlineliterature only

SCV000256690Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
criteria provided, single submitter

(White et al. (AJHG 2015))
Pathogenic
(Mar 26, 2015)
de novoresearch

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot providednot providednoresearch
not providedgermlineunknownnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy.

Lupski JR, Gonzaga-Jauregui C, Yang Y, Bainbridge MN, Jhangiani S, Buhay CJ, Kovar CL, Wang M, Hawes AC, Reid JG, Eng C, Muzny DM, Gibbs RA.

Genome Med. 2013;5(6):57. doi: 10.1186/gm461.

PubMed [citation]
PMID:
23806086
PMCID:
PMC3706849

Clinical whole-exome sequencing for the diagnosis of mendelian disorders.

Yang Y, Muzny DM, Reid JG, Bainbridge MN, Willis A, Ward PA, Braxton A, Beuten J, Xia F, Niu Z, Hardison M, Person R, Bekheirnia MR, Leduc MS, Kirby A, Pham P, Scull J, Wang M, Ding Y, Plon SE, Lupski JR, Beaudet AL, et al.

N Engl J Med. 2013 Oct 17;369(16):1502-11. doi: 10.1056/NEJMoa1306555. Epub 2013 Oct 2.

PubMed [citation]
PMID:
24088041
PMCID:
PMC4211433
See all PubMed Citations (3)

Details of each submission

From GeneReviews, SCV000243851.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature onlynot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine, SCV000256690.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednoresearch PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providedBloodnot provided1not providednot providednot provided

Last Updated: Oct 14, 2023