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NM_015634.4(KIFBP):c.169G>T (p.Glu57Ter) AND Goldberg-Shprintzen syndrome

Germline classification:
Likely pathogenic (1 submission)
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:
RCV001251036.1

Allele description [Variation Report for NM_015634.4(KIFBP):c.169G>T (p.Glu57Ter)]

NM_015634.4(KIFBP):c.169G>T (p.Glu57Ter)

Gene:
KIFBP:kinesin family binding protein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q22.1
Genomic location:
Preferred name:
NM_015634.4(KIFBP):c.169G>T (p.Glu57Ter)
HGVS:
  • NC_000010.11:g.68989001G>T
  • NG_017061.1:g.5281G>T
  • NM_015634.4:c.169G>TMANE SELECT
  • NP_056449.1:p.Glu57Ter
  • NC_000010.10:g.70748757G>T
  • NM_015634.3:c.169G>T
Protein change:
E57*
Links:
dbSNP: rs770201721
NCBI 1000 Genomes Browser:
rs770201721
Molecular consequence:
  • NM_015634.4:c.169G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Goldberg-Shprintzen syndrome
Identifiers:
MONDO: MONDO:0012280; MedGen: C1836123; Orphanet: 66629; OMIM: 609460

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001426432Centogene AG - the Rare Disease Company
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenicgermlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot 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 Centogene AG - the Rare Disease Company, SCV001426432.1

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

Last Updated: Sep 16, 2024