U.S. flag

An official website of the United States government

NM_001163435.3(TBCK):c.193+1G>T AND Hypotonia, infantile, with psychomotor retardation and characteristic facies 3

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 1, 2020
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:
RCV001264817.1

Allele description [Variation Report for NM_001163435.3(TBCK):c.193+1G>T]

NM_001163435.3(TBCK):c.193+1G>T

Gene:
TBCK:TBC1 domain containing kinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q24
Genomic location:
Preferred name:
NM_001163435.3(TBCK):c.193+1G>T
HGVS:
  • NC_000004.12:g.106308767C>A
  • NG_034057.3:g.12917G>T
  • NM_001163435.3:c.193+1G>TMANE SELECT
  • NM_001163436.4:c.193+1G>T
  • NM_001163437.3:c.193+1G>T
  • NM_001290768.2:c.-425+1G>T
  • NM_033115.5:c.193+1G>T
  • LRG_836t1:c.193+1G>T
  • LRG_836:g.12917G>T
  • NC_000004.11:g.107229924C>A
  • NM_001163435.1:c.193+1G>T
Links:
dbSNP: rs1767828321
NCBI 1000 Genomes Browser:
rs1767828321
Molecular consequence:
  • NM_001163435.3:c.193+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001163436.4:c.193+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001163437.3:c.193+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001290768.2:c.-425+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_033115.5:c.193+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 (IHPRF3)
Identifiers:
MONDO: MONDO:0014823; MedGen: C5567480; OMIM: 616900

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
SCV001443060Institute of Human Genetics, University of Leipzig Medical Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Mar 1, 2020) 		biparentalclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedbiparentalyesnot 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 Institute of Human Genetics, University of Leipzig Medical Center, SCV001443060.1

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

Description

Review of the variants reported in Reuter et al., 2017, PMID: 28097321: PVS1,PM2,PM3_Supporting,(PP1)

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

Last Updated: Jun 10, 2023