NM_000159.4(GCDH):c.1199dup (p.Ile401fs) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Feb 10, 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:: RCV001558291.2

Allele description [Variation Report for NM_000159.4(GCDH):c.1199dup (p.Ile401fs)]

NM_000159.4(GCDH):c.1199dup (p.Ile401fs)

Gene:

GCDH:glutaryl-CoA dehydrogenase [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

19p13.13

Genomic location:

Preferred name:

NM_000159.4(GCDH):c.1199dup (p.Ile401fs)

HGVS:

NC_000019.10:g.12897819dup
NG_009292.1:g.11660dup
NG_033049.1:g.26454dup
NM_000159.4:c.1199dupMANE SELECT
NM_013976.5:c.1199dup
NP_000150.1:p.Ile401fs
NP_039663.1:p.Ile401fs
NC_000019.9:g.13008632_13008633insT
NC_000019.9:g.13008633dup
NM_000159.2:c.1199dupT
NM_000159.3:c.1199dupT
NR_102316.1:n.1362dup
NR_102317.1:n.1580dup

Protein change:

I401fs

Links:

dbSNP: rs1970722328

NCBI 1000 Genomes Browser:

rs1970722328

Molecular consequence:

NM_000159.4:c.1199dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_013976.5:c.1199dup - frameshift variant - [Sequence Ontology: SO:0001589]
NR_102316.1:n.1362dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_102317.1:n.1580dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001780205	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely pathogenic (Feb 10, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001780205

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely pathogenic
(Feb 10, 2021)

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, SCV001780205.1

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

Description

Frameshift variant in the C-terminus predicted to result in protein truncation, as the last 38 amino acids are lost and replaced with 17 incorrect amino acids (Stenson et al., 2014); Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek et al., 2016)

#	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 23, 2024

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