NM_001348768.2(HECW2):c.3980T>C (p.Phe1327Ser) AND Neurodevelopmental disorder with hypotonia, seizures, and absent language

Germline classification:: Likely pathogenic (2 submissions)
Last evaluated:: Mar 17, 2021
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:: RCV001252514.3

Allele description [Variation Report for NM_001348768.2(HECW2):c.3980T>C (p.Phe1327Ser)]

NM_001348768.2(HECW2):c.3980T>C (p.Phe1327Ser)

Gene:

HECW2:HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q32.3

Genomic location:

Preferred name:

NM_001348768.2(HECW2):c.3980T>C (p.Phe1327Ser)

HGVS:

NC_000002.12:g.196225808A>G
NG_053156.1:g.372885T>C
NM_001304840.3:c.2912T>C
NM_001348768.2:c.3980T>CMANE SELECT
NM_020760.4:c.3980T>C
NP_001291769.1:p.Phe971Ser
NP_001335697.1:p.Phe1327Ser
NP_065811.1:p.Phe1327Ser
NC_000002.11:g.197090532A>G
NM_020760.2:c.3980T>C
p.(Phe1327Ser)

Protein change:

F1327S

Links:

dbSNP: rs1687828601

NCBI 1000 Genomes Browser:

rs1687828601

Molecular consequence:

NM_001304840.3:c.2912T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001348768.2:c.3980T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_020760.4:c.3980T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Neurodevelopmental disorder with hypotonia, seizures, and absent language (NDHSAL)
Identifiers:: MONDO: MONDO:0014995; MedGen: C4310643; OMIM: 617268

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001428271	Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille	no assertion criteria provided	Likely pathogenic (Jan 1, 2019)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001519457	Center for Statistical Genetics, Columbia University	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Mar 17, 2021)	de novo	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

SCV001428271

Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille

no assertion criteria provided

Likely pathogenic
(Jan 1, 2019)

unknown

clinical testing

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

SCV001519457

Center for Statistical Genetics, Columbia University

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Mar 17, 2021)

de novo

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	de novo	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	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 Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille, SCV001428271.1

#	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	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Center for Statistical Genetics, Columbia University, SCV001519457.1

#	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

Last Updated: Jun 23, 2024

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