NM_004667.6(HERC2):c.11981A>C (p.Glu3994Ala) AND Developmental delay with autism spectrum disorder and gait instability

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 29, 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:: RCV001614480.2

Allele description [Variation Report for NM_004667.6(HERC2):c.11981A>C (p.Glu3994Ala)]

NM_004667.6(HERC2):c.11981A>C (p.Glu3994Ala)

Gene:

HERC2:HECT and RLD domain containing E3 ubiquitin protein ligase 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q13.1

Genomic location:

Preferred name:

NM_004667.6(HERC2):c.11981A>C (p.Glu3994Ala)

HGVS:

NC_000015.10:g.28141466T>G
NG_016355.1:g.185684A>C
NM_004667.6:c.11981A>CMANE SELECT
NP_004658.3:p.Glu3994Ala
NC_000015.9:g.28386612T>G
NM_004667.4:c.11981A>C

Protein change:

E3994A

Links:

dbSNP: rs2142241769

NCBI 1000 Genomes Browser:

rs2142241769

Molecular consequence:

NM_004667.6:c.11981A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Developmental delay with autism spectrum disorder and gait instability (MRT38)
Synonyms:: Intellectual developmental disorder, autosomal recessive 38
Identifiers:: MONDO: MONDO:0014224; MedGen: C3809753; Orphanet: 329195; OMIM: 615516

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001837645	Institute of Human Genetics, University of Goettingen	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jun 29, 2021)	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

SCV001837645

Institute of Human Genetics, University of Goettingen

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jun 29, 2021)

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	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, University of Goettingen, SCV001837645.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1		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	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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