NM_001378418.1(TCF20):c.2568dup (p.Gly857fs) AND Developmental delay with variable intellectual impairment and behavioral abnormalities

Germline classification:: Pathogenic/Likely pathogenic (2 submissions)
Last evaluated:: Aug 25, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV003328141.3

Allele description [Variation Report for NM_001378418.1(TCF20):c.2568dup (p.Gly857fs)]

NM_001378418.1(TCF20):c.2568dup (p.Gly857fs)

Gene:

TCF20:transcription factor 20 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

22q13.2

Genomic location:

Preferred name:

NM_001378418.1(TCF20):c.2568dup (p.Gly857fs)

HGVS:

NC_000022.11:g.42212738dup
NG_028982.3:g.135879dup
NM_001378418.1:c.2568dupMANE SELECT
NM_005650.4:c.2568dup
NM_181492.3:c.2568dup
NP_001365347.1:p.Gly857fs
NP_005641.1:p.Gly857fs
NP_852469.1:p.Gly857fs
LRG_1025t1:c.2568dup
LRG_1025t2:c.2568dup
LRG_1025:g.135879dup
LRG_1025p1:p.Gly857fs
LRG_1025p2:p.Gly857fs
NC_000022.10:g.42608744dup
NM_005650.3:c.2568dup

Protein change:

G857fs

Molecular consequence:

NM_001378418.1:c.2568dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_005650.4:c.2568dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_181492.3:c.2568dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Developmental delay with variable intellectual impairment and behavioral abnormalities
Identifiers:: MONDO: MONDO:0032745; MedGen: C5193092; OMIM: 618430

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SAMN13542972 (1)
SRA
Salmonella enterica subsp. diarizonae serovar 61:k:1,5,(7) strain 14-SA00836-0 c...
Salmonella enterica subsp. diarizonae serovar 61:k:1,5,(7) strain 14-SA00836-0 chromosome, complete genome
gi|1851972864|gb|CP054422.1|

Nucleotide
Lates calcarifer
Lates calcarifer
Raw GBS data set for 1076 individuals of Asian seabass

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004035073	Institute of Human Genetics, Cologne University	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Aug 25, 2023)	de novo	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004041070	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Feb 9, 2023)	unknown	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

SCV004035073

Institute of Human Genetics, Cologne University

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Aug 25, 2023)

de novo

clinical testing

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

SCV004041070

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Feb 9, 2023)

unknown

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	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	de novo	yes	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 Institute of Human Genetics, Cologne University, SCV004035073.1

#	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	de novo	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Baylor Genetics, SCV004041070.1

#	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 7, 2023

ClinVar

Relating variation to medicine