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NM_003678.5(THOC5):c.1324T>A (p.Leu442Met) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 14, 2023
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:
RCV004337199.1

Allele description [Variation Report for NM_003678.5(THOC5):c.1324T>A (p.Leu442Met)]

NM_003678.5(THOC5):c.1324T>A (p.Leu442Met)

Gene:
THOC5:THO complex subunit 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
22q12.2
Genomic location:
Preferred name:
NM_003678.5(THOC5):c.1324T>A (p.Leu442Met)
HGVS:
  • NC_000022.11:g.29520058A>T
  • NM_001002877.2:c.1324T>A
  • NM_001002878.1:c.1324T>A
  • NM_001002879.1:c.1324T>A
  • NM_003678.5:c.1324T>AMANE SELECT
  • NP_001002877.1:p.Leu442Met
  • NP_001002878.1:p.Leu442Met
  • NP_001002879.1:p.Leu442Met
  • NP_003669.4:p.Leu442Met
  • NC_000022.10:g.29916047A>T
Protein change:
L442M
Molecular consequence:
  • NM_001002877.2:c.1324T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001002878.1:c.1324T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001002879.1:c.1324T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003678.5:c.1324T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004055387Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jul 14, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV004055387.2

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

Description

The c.1324T>A (p.L442M) alteration is located in exon 15 (coding exon 13) of the THOC5 gene. This alteration results from a T to A substitution at nucleotide position 1324, causing the leucine (L) at amino acid position 442 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Nov 10, 2024