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NM_001457.4(FLNB):c.4768_4771del (p.Ile1590fs) AND Spondylocarpotarsal synostosis syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 13, 2016
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:
RCV000677698.2

Allele description [Variation Report for NM_001457.4(FLNB):c.4768_4771del (p.Ile1590fs)]

NM_001457.4(FLNB):c.4768_4771del (p.Ile1590fs)

Gene:
FLNB:filamin B [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
3p14.3
Genomic location:
Preferred name:
NM_001457.4(FLNB):c.4768_4771del (p.Ile1590fs)
HGVS:
  • NC_000003.12:g.58136075_58136078del
  • NG_012801.1:g.132676_132679del
  • NM_001164317.2:c.4861_4864del
  • NM_001164318.2:c.4768_4771del
  • NM_001164319.2:c.4768_4771del
  • NM_001457.4:c.4768_4771delMANE SELECT
  • NP_001157789.1:p.Ile1621fs
  • NP_001157790.1:p.Ile1590fs
  • NP_001157791.1:p.Ile1590fs
  • NP_001448.2:p.Ile1590fs
  • NC_000003.11:g.58121802_58121805del
  • NM_001457.3:c.4768_4771delATTG
Protein change:
I1590fs
Links:
dbSNP: rs1553703909
NCBI 1000 Genomes Browser:
rs1553703909
Molecular consequence:
  • NM_001164317.2:c.4861_4864del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001164318.2:c.4768_4771del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001164319.2:c.4768_4771del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001457.4:c.4768_4771del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Spondylocarpotarsal synostosis syndrome (SCT)
Synonyms:
Spondylocarpotarsal syndrome; Synspondylism congenital; Vertebral fusion with carpal coalition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010094; MedGen: C1848934; Orphanet: 3275; OMIM: 272460

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000803846Equipe Genetique des Anomalies du Developpement, Université de Bourgogne - Clinvar_gadteam_Clinical_exome_analysis_3
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jan 13, 2016) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot 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 Equipe Genetique des Anomalies du Developpement, Université de Bourgogne - Clinvar_gadteam_Clinical_exome_analysis_3, SCV000803846.1

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

Last Updated: Jun 23, 2024