U.S. flag

An official website of the United States government

NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) AND Short-rib thoracic dysplasia 14 with polydactyly

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Sep 10, 2020
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001283811.5

Allele description [Variation Report for NM_001329943.3(KIAA0586):c.392del (p.Arg131fs)]

NM_001329943.3(KIAA0586):c.392del (p.Arg131fs)

Gene:
KIAA0586:KIAA0586 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
14q23.1
Genomic location:
Preferred name:
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs)
Other names:
NM_001329943.3(KIAA0586):c.392del; p.Arg131fs
HGVS:
  • NC_000014.9:g.58432439del
  • NG_051335.2:g.10055del
  • NM_001244189.2:c.428del
  • NM_001244190.2:c.347del
  • NM_001244191.2:c.137del
  • NM_001244192.2:c.137del
  • NM_001329943.3:c.392delMANE SELECT
  • NM_001329944.2:c.392del
  • NM_001329945.2:c.137del
  • NM_001329946.2:c.392del
  • NM_001329947.2:c.392del
  • NM_001364700.1:c.137del
  • NM_001364701.2:c.137del
  • NM_014749.5:c.392del
  • NP_001231118.1:p.Arg143fs
  • NP_001231119.1:p.Arg116fs
  • NP_001231120.1:p.Arg46fs
  • NP_001231121.1:p.Arg46fs
  • NP_001316872.1:p.Arg131fs
  • NP_001316873.1:p.Arg131fs
  • NP_001316874.1:p.Arg46fs
  • NP_001316875.1:p.Arg131fs
  • NP_001316876.1:p.Arg131fs
  • NP_001351629.1:p.Arg46fs
  • NP_001351630.1:p.Arg46fs
  • NP_055564.3:p.Arg131fs
  • LRG_1096t1:c.428del
  • LRG_1096t2:c.392del
  • LRG_1096t3:c.392del
  • LRG_1096:g.10055del
  • LRG_1096p1:p.Arg143fs
  • LRG_1096p2:p.Arg131fs
  • LRG_1096p3:p.Arg131fs
  • NC_000014.8:g.58899157del
  • NC_000014.8:g.58899157delG
  • NM_001244189.1:c.428del
  • NM_001244189.1:c.428delG
  • NM_001244190.1:c.347delG
  • NM_001329943.2:c.392del
  • NM_001329943.3:c.392del
  • NM_001329943.3:c.392delGMANE SELECT
  • NM_014749.3:c.392del
  • NM_014749.3:c.392delG
  • p.Arg143LysfsX4
Protein change:
R116fs
Links:
OMIM: 610178.0001; dbSNP: rs534542684
NCBI 1000 Genomes Browser:
rs534542684
Molecular consequence:
  • NM_001244189.2:c.428del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001244190.2:c.347del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001244191.2:c.137del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001244192.2:c.137del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001329943.3:c.392del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001329944.2:c.392del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001329945.2:c.137del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001329946.2:c.392del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001329947.2:c.392del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001364700.1:c.137del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001364701.2:c.137del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_014749.5:c.392del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Short-rib thoracic dysplasia 14 with polydactyly (SRTD14)
Identifiers:
MONDO: MONDO:0014688; MedGen: C4225286; Orphanet: 397715; OMIM: 616546

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001469208Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
no assertion criteria provided
Likely pathogenic
(Sep 10, 2020) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City, SCV001469208.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jan 13, 2025