U.S. flag

An official website of the United States government

NM_024753.5(TTC21B):c.1448_1458del (p.Thr483fs) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 9, 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:
RCV003085913.3

Allele description [Variation Report for NM_024753.5(TTC21B):c.1448_1458del (p.Thr483fs)]

NM_024753.5(TTC21B):c.1448_1458del (p.Thr483fs)

Gene:
TTC21B:tetratricopeptide repeat domain 21B [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
2q24.3
Genomic location:
Preferred name:
NM_024753.5(TTC21B):c.1448_1458del (p.Thr483fs)
HGVS:
  • NC_000002.12:g.165924610_165924620del
  • NG_030345.1:g.34222_34232del
  • NM_024753.5:c.1448_1458delMANE SELECT
  • NP_079029.3:p.Thr483fs
  • NC_000002.11:g.166781117_166781127del
  • NC_000002.11:g.166781120_166781130del
Protein change:
T483fs
Molecular consequence:
  • NM_024753.5:c.1448_1458del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Jeune thoracic dystrophy (ATD1)
Synonyms:
Jeune syndrome; Infantile thoracic dystrophy; Thoracic pelvic phalangeal dystrophy; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0018770; MedGen: C0265275; OMIM: PS208500
Name:
Nephronophthisis
Synonyms:
juvenile nephronophthisis
Identifiers:
MONDO: MONDO:0019005; MedGen: C0687120; OMIM: PS256100; Human Phenotype Ontology: HP:0000090

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
SCV003471605Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Apr 9, 2022) 		germlineclinical testing

PubMed (9)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

THM1 negatively modulates mouse sonic hedgehog signal transduction and affects retrograde intraflagellar transport in cilia.

Tran PV, Haycraft CJ, Besschetnova TY, Turbe-Doan A, Stottmann RW, Herron BJ, Chesebro AL, Qiu H, Scherz PJ, Shah JV, Yoder BK, Beier DR.

Nat Genet. 2008 Apr;40(4):403-410. doi: 10.1038/ng.105. Epub 2008 Mar 9.

PubMed [citation]
PMID:
18327258
PMCID:
PMC4817720

Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.

Otto EA, Ramaswami G, Janssen S, Chaki M, Allen SJ, Zhou W, Airik R, Hurd TW, Ghosh AK, Wolf MT, Hoppe B, Neuhaus TJ, Bockenhauer D, Milford DV, Soliman NA, Antignac C, Saunier S, Johnson CA, Hildebrandt F; GPN Study Group.

J Med Genet. 2011 Feb;48(2):105-16. doi: 10.1136/jmg.2010.082552. Epub 2010 Nov 10. Erratum in: J Med Genet. 2015 Dec;52(12):866. doi: 10.1136/jmg-2010-082552corr1.

PubMed [citation]
PMID:
21068128
PMCID:
PMC3913043
See all PubMed Citations (9)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003471605.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (9)

Description

For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with TTC21B-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Thr483Asnfs*21) in the TTC21B gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TTC21B are known to be pathogenic (PMID: 18327258, 21068128, 21258341, 23559409, 24876116, 25492405, 27491411, 29068549).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024