NM_014712.3(SETD1A):c.526C>T (p.Arg176Ter) AND Neurodevelopmental disorder with speech impairment and dysmorphic facies

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 13, 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:: RCV002510552.2

Allele description [Variation Report for NM_014712.3(SETD1A):c.526C>T (p.Arg176Ter)]

NM_014712.3(SETD1A):c.526C>T (p.Arg176Ter)

Gene:

SETD1A:SET domain containing 1A, histone lysine methyltransferase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p11.2

Genomic location:

Preferred name:

NM_014712.3(SETD1A):c.526C>T (p.Arg176Ter)

HGVS:

NC_000016.10:g.30963441C>T
NG_052948.1:g.11148C>T
NM_014712.3:c.526C>TMANE SELECT
NP_055527.1:p.Arg176Ter
NC_000016.9:g.30974762C>T

Protein change:

R176*

Molecular consequence:

NM_014712.3:c.526C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Neurodevelopmental disorder with speech impairment and dysmorphic facies
Identifiers:: MONDO: MONDO:0033630; MedGen: C5436699; OMIM: 619056

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002820059	Human Developmental Genetics Laboratory, Medical College of Wisconsin	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jan 13, 2023)	de novo	research	PubMed (2) [See all records that cite these PMIDs] 25741868, 36672956

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002820059

Human Developmental Genetics Laboratory, Medical College of Wisconsin

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jan 13, 2023)

de novo

research

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	not provided	not provided	not provided	not provided	not provided	research

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

Distinct Roles of Histone Lysine Demethylases and Methyltransferases in Developmental Eye Disease.

Reis LM, Atilla H, Kannu P, Schneider A, Thompson S, Bardakjian T, Semina EV.

Genes (Basel). 2023 Jan 14;14(1). doi: 10.3390/genes14010216.

PubMed [citation]

PMID:: 36672956
PMCID:: PMC9859058

Details of each submission

From Human Developmental Genetics Laboratory, Medical College of Wisconsin, SCV002820059.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (2)

#	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

Last Updated: Feb 7, 2023

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