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NM_001199107.2(TBC1D24):c.734T>C (p.Leu245Pro) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 23, 2017
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:
RCV000768328.2

Allele description [Variation Report for NM_001199107.2(TBC1D24):c.734T>C (p.Leu245Pro)]

NM_001199107.2(TBC1D24):c.734T>C (p.Leu245Pro)

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.734T>C (p.Leu245Pro)
HGVS:
  • NC_000016.10:g.2496882T>C
  • NG_028170.1:g.26737T>C
  • NM_001199107.1:c.734T>C
  • NM_001199107.2:c.734T>CMANE SELECT
  • NM_020705.3:c.734T>C
  • NP_001186036.1:p.Leu245Pro
  • NP_065756.1:p.Leu245Pro
  • NC_000016.9:g.2546883T>C
Protein change:
L245P
Links:
dbSNP: rs370477379
NCBI 1000 Genomes Browser:
rs370477379
Molecular consequence:
  • NM_001199107.2:c.734T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020705.3:c.734T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
DOORS syndrome (DOORS)
Synonyms:
Deafness onychodystrophy osteodystrophy and mental retardation syndrome; DRC SYNDROME; BRACHYDACTYLY DUE TO ABSENCE OF DISTAL PHALANGES; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009079; MedGen: C0795934; Orphanet: 3231; Orphanet: 79500; OMIM: 220500
Name:
Familial infantile myoclonic epilepsy (FIME)
Synonyms:
Epilepsy, Myoclonic, Infantile
Identifiers:
MONDO: MONDO:0011506; MedGen: C0917800; Orphanet: 352582; OMIM: 605021
Name:
Autosomal recessive nonsyndromic hearing loss 86 (DFNB86)
Synonyms:
Deafness, autosomal recessive 86; Deafness , autosomal recessive 86
Identifiers:
MONDO: MONDO:0013826; MedGen: C2829265; Orphanet: 90636; OMIM: 614617
Name:
Developmental and epileptic encephalopathy, 16 (DEE16)
Synonyms:
Early infantile epileptic encephalopathy 16
Identifiers:
MONDO: MONDO:0014133; MedGen: C3809173; Orphanet: 293181; Orphanet: 352596; OMIM: 615338
Name:
Autosomal dominant nonsyndromic hearing loss 65
Synonyms:
Deafness, autosomal dominant 65
Identifiers:
MONDO: MONDO:0014470; MedGen: C3892048; Orphanet: 90635; OMIM: 616044

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000899008Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Oct 23, 2017) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot 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 Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago, SCV000899008.1

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

Description

TBC1D24 NM_001199107.1 exon 2 p.Leu245Pro (c.734T>C): This variant has not been reported in the literature but is present in 2/111650 European alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs370477379). Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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

Last Updated: Nov 10, 2024