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NM_003590.5(CUL3):c.1549_1552del (p.Ser517fs) AND Abnormal cardiovascular system morphology

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jul 25, 2022
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:
RCV002463785.1

Allele description [Variation Report for NM_003590.5(CUL3):c.1549_1552del (p.Ser517fs)]

NM_003590.5(CUL3):c.1549_1552del (p.Ser517fs)

Gene:
CUL3:cullin 3 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
2q36.2
Genomic location:
Preferred name:
NM_003590.5(CUL3):c.1549_1552del (p.Ser517fs)
HGVS:
  • NC_000002.12:g.224500421CTGA[1]
  • NC_000002.12:g.224500421_224500424CTGA[1]
  • NG_032169.1:g.89970TCAG[1]
  • NM_001257197.2:c.1351_1354del
  • NM_001257198.2:c.1567_1570del
  • NM_003590.5:c.1549_1552delMANE SELECT
  • NP_001244126.1:p.Ser451fs
  • NP_001244127.1:p.Ser523fs
  • NP_003581.1:p.Ser517fs
  • NC_000002.11:g.225365138CTGA[1]
  • NC_000002.11:g.225365138_225365141del
  • NM_001257198.1:c.1567_1570del
  • NM_003590.4:c.1549_1552del
Protein change:
S451fs
Links:
dbSNP: rs1692335353
NCBI 1000 Genomes Browser:
rs1692335353
Molecular consequence:
  • NM_001257197.2:c.1351_1354del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001257198.2:c.1567_1570del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_003590.5:c.1549_1552del - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
Abnormal cardiovascular system morphology
Synonyms:
Abnormality of cardiovascular system morphology
Identifiers:
MedGen: C4049796; Human Phenotype Ontology: HP:0030680

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002605331Provincial Medical Genetics Program of British Columbia, University of British Columbia
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely pathogenic
(Jul 25, 2022)
de novoclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not 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 Provincial Medical Genetics Program of British Columbia, University of British Columbia, SCV002605331.1

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

Last Updated: Sep 29, 2024