NM_001377.3(DYNC2H1):c.8885AAG[1] (p.Glu2963del) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Apr 7, 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:: RCV003226989.1

Allele description [Variation Report for NM_001377.3(DYNC2H1):c.8885AAG[1] (p.Glu2963del)]

NM_001377.3(DYNC2H1):c.8885AAG[1] (p.Glu2963del)

Gene:

DYNC2H1:dynein cytoplasmic 2 heavy chain 1 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

11q22.3

Genomic location:

Preferred name:

NM_001377.3(DYNC2H1):c.8885AAG[1] (p.Glu2963del)

HGVS:

NC_000011.10:g.103219967AAG[1]
NC_000011.10:g.103219967_103219969AAG[1]
NG_016423.2:g.115537AAG[1]
NM_001080463.1:c.8888_8890del
NM_001080463.2:c.8885AAG[1]
NM_001377.3:c.8885AAG[1]MANE SELECT
NP_001073932.1:p.Glu2963del
NP_001368.2:p.Glu2963del
NC_000011.9:g.103090694_103090696delAGA
NC_000011.9:g.103090696AAG[1]
NM_001377.3:c.8888_8890delMANE SELECT

Protein change:

E2963del

Links:

dbSNP: rs770387587

NCBI 1000 Genomes Browser:

rs770387587

Molecular consequence:

NM_001080463.2:c.8885AAG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001377.3:c.8885AAG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003923859	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely pathogenic (Apr 7, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003923859

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely pathogenic
(Apr 7, 2023)

germline

clinical testing

Citation Link

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

Details of each submission

From GeneDx, SCV003923859.1

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

Description

In-frame deletion of one amino acids in a non-repeat region; Not observed at a significant frequency in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: Lopes Yamamoto 2017[PhD thesis])

#	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: Jul 29, 2023

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