U.S. flag

An official website of the United States government

NM_001199107.2(TBC1D24):c.845C>G (p.Pro282Arg) AND DOORS syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 22, 2019
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:
RCV001330478.2

Allele description [Variation Report for NM_001199107.2(TBC1D24):c.845C>G (p.Pro282Arg)]

NM_001199107.2(TBC1D24):c.845C>G (p.Pro282Arg)

Gene:
TBC1D24:TBC1 domain family member 24 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_001199107.2(TBC1D24):c.845C>G (p.Pro282Arg)
Other names:
p.P282R:CCT>CGT
HGVS:
  • NC_000016.10:g.2496993C>G
  • NG_028170.1:g.26848C>G
  • NM_001199107.2:c.845C>GMANE SELECT
  • NM_020705.3:c.845C>G
  • NP_001186036.1:p.Pro282Arg
  • NP_065756.1:p.Pro282Arg
  • NC_000016.9:g.2546994C>G
  • NM_001199107.1:c.845C>G
  • NM_020705.2:c.845C>G
  • p.Pro282Arg
Protein change:
P282R
Links:
dbSNP: rs747538224
NCBI 1000 Genomes Browser:
rs747538224
Molecular consequence:
  • NM_001199107.2:c.845C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020705.3:c.845C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
DOORS syndrome (DOORS)
Synonyms:
DOOR SYNDROME; Deafness onychodystrophy osteodystrophy and mental retardation syndrome; DRC SYNDROME; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009079; MedGen: C0795934; Orphanet: 3231; Orphanet: 79500; OMIM: 220500

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
SCV001522162Baylor Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Oct 22, 2019) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot 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 Baylor Genetics, SCV001522162.1

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

Description

This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].

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

Last Updated: Jan 13, 2025