NM_024339.5(THOC6):c.44_45del (p.Glu15fs) AND THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Dec 28, 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:: RCV001783869.4

Allele description [Variation Report for NM_024339.5(THOC6):c.44_45del (p.Glu15fs)]

NM_024339.5(THOC6):c.44_45del (p.Glu15fs)

Gene:

THOC6:THO complex subunit 6 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

16p13.3

Genomic location:

Preferred name:

NM_024339.5(THOC6):c.44_45del (p.Glu15fs)

HGVS:

NC_000016.10:g.3025710AG[1]
NG_052595.1:g.6692AG[1]
NM_001142350.3:c.44_45del
NM_001347704.2:c.44_45del
NM_024339.5:c.44_45delMANE SELECT
NP_001135822.1:p.Glu15fs
NP_001334633.1:p.Glu15fs
NP_077315.2:p.Glu15fs
NC_000016.9:g.3075711AG[1]
NM_024339.3:c.44_45del

Protein change:

E15fs

Links:

dbSNP: rs754379725

NCBI 1000 Genomes Browser:

rs754379725

Molecular consequence:

NM_001142350.3:c.44_45del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001347704.2:c.44_45del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_024339.5:c.44_45del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
Synonyms:: Microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations; Beaulieu-Boycott-Innes syndrome
Identifiers:: MONDO: MONDO:0013362; MedGen: C3150939; Orphanet: 363444; OMIM: 613680

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002016890	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Dec 28, 2019)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002016890

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Dec 28, 2019)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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 Revvity Omics, Revvity, SCV002016890.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Mar 16, 2024

ClinVar

Relating variation to medicine