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NM_024339.5(THOC6):c.363-6C>T AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 2, 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:
RCV002707496.1

Allele description

NM_024339.5(THOC6):c.363-6C>T

Gene:
THOC6:THO complex subunit 6 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_024339.5(THOC6):c.363-6C>T
HGVS:
  • NC_000016.10:g.3026359C>T
  • NG_052595.1:g.7341C>T
  • NM_001142350.3:c.363-6C>T
  • NM_001347703.2:c.291-6C>T
  • NM_001347704.2:c.363-6C>T
  • NM_024339.5:c.363-6C>TMANE SELECT
  • NC_000016.9:g.3076360C>T
  • NM_024339.3:c.363-6C>T
Molecular consequence:
  • NM_001142350.3:c.363-6C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001347703.2:c.291-6C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001347704.2:c.363-6C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_024339.5:c.363-6C>T - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003551067Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Uncertain significance
(Dec 2, 2020) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV003551067.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The c.363-6C>T intronic alteration consists of a C to T substitution 6 nucleotides before exon 6 (coding exon 6) in the THOC6 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Feb 13, 2023