U.S. flag

An official website of the United States government

NM_024753.5(TTC21B):c.1697A>G (p.His566Arg) AND TTC21B-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 8, 2024
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:
RCV004734779.1

Allele description [Variation Report for NM_024753.5(TTC21B):c.1697A>G (p.His566Arg)]

NM_024753.5(TTC21B):c.1697A>G (p.His566Arg)

Gene:
TTC21B:tetratricopeptide repeat domain 21B [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q24.3
Genomic location:
Preferred name:
NM_024753.5(TTC21B):c.1697A>G (p.His566Arg)
HGVS:
  • NC_000002.12:g.165917459T>C
  • NG_030345.1:g.41380A>G
  • NM_024753.5:c.1697A>GMANE SELECT
  • NP_079029.3:p.His566Arg
  • NC_000002.11:g.166773969T>C
  • NM_024753.4:c.1697A>G
  • Q7Z4L5:p.His566Arg
Protein change:
H566R
Links:
UniProtKB: Q7Z4L5#VAR_065529; dbSNP: rs146320075
NCBI 1000 Genomes Browser:
rs146320075
Molecular consequence:
  • NM_024753.5:c.1697A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
TTC21B-related disorder
Synonyms:
TTC21B-Related Disorders; TTC21B-related condition
Identifiers:

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
SCV005366400PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Uncertain significance
(May 8, 2024) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV005366400.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The TTC21B c.1697A>G variant is predicted to result in the amino acid substitution p.His566Arg. This variant was reported in individuals with TTC21B-related diseases (Davis et al. 2011. PubMed ID: 21258341, Supplementary Tables; Nagaoka et al. 2021. PubMed ID: 33452237). This variant is reported in >0.25% of alleles in individuals of European (Finnish) descent in gnomAD and there are two homozygotes of this variant in individuals of European (non-Finnish) descent in the new version (v4) of gnomAD (https://gnomad.broadinstitute.org/variant/2-165917459-T-C?dataset=gnomad_r4). Although we suspect this variant may be benign due to the relatively high allele frequency in the general population, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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

Last Updated: Oct 20, 2024