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NM_021939.4(FKBP10):c.391+1G>A AND Bruck syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 6, 2020
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:
RCV001260285.2

Allele description [Variation Report for NM_021939.4(FKBP10):c.391+1G>A]

NM_021939.4(FKBP10):c.391+1G>A

Gene:
FKBP10:FKBP prolyl isomerase 10 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.2
Genomic location:
Preferred name:
NM_021939.4(FKBP10):c.391+1G>A
HGVS:
  • NC_000017.11:g.41817204G>A
  • NG_015860.1:g.9495G>A
  • NM_021939.4:c.391+1G>AMANE SELECT
  • LRG_12t1:c.391+1G>A
  • LRG_12:g.9495G>A
  • NC_000017.10:g.39973456G>A
  • NC_000017.10:g.39973456G>A
  • NM_021939.3:c.391+1G>A
Links:
dbSNP: rs141847881
NCBI 1000 Genomes Browser:
rs141847881
Molecular consequence:
  • NM_021939.4:c.391+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Bruck syndrome
Identifiers:
MONDO: MONDO:0017195; MedGen: C0432253; OMIM: PS259450

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001244838Genetics Department, Polish Mother's Memorial Hospital Research Institute
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Apr 6, 2020) 		unknownresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Polishunknownyes1not providednot providednot providednot providedresearch

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 Genetics Department, Polish Mother's Memorial Hospital Research Institute, SCV001244838.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Polish1not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 8, 2024