NM_000191.3(HMGCL):c.206_207del (p.Ser69fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 22, 2022
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:: RCV000185970.6

Allele description [Variation Report for NM_000191.3(HMGCL):c.206_207del (p.Ser69fs)]

NM_000191.3(HMGCL):c.206_207del (p.Ser69fs)

Gene:

HMGCL:3-hydroxy-3-methylglutaryl-CoA lyase [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

1p36.11

Genomic location:

Preferred name:

NM_000191.3(HMGCL):c.206_207del (p.Ser69fs)

HGVS:

NC_000001.11:g.23817521AG[2]
NG_013061.1:g.12934CT[2]
NM_000191.3:c.206_207delMANE SELECT
NM_001166059.2:c.206_207del
NP_000182.2:p.Ser69fs
NP_001159531.1:p.Ser69fs
NC_000001.10:g.24144011AG[2]
NC_000001.10:g.24144011_24144012del
NM_000191.2:c.206_207del
NM_000191.2:c.206_207delCT
NM_000191.3:c.206_207delCTMANE SELECT
p.S69CfsX11

Protein change:

S69fs

Links:

OMIM: 613898.0001; dbSNP: rs752137615

NCBI 1000 Genomes Browser:

rs752137615

Molecular consequence:

NM_000191.3:c.206_207del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001166059.2:c.206_207del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000238928	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Jul 22, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000238928

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Jul 22, 2022)

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, SCV000238928.8

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

Description

Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 8440722, 19177531, 35646072)

#	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: Sep 29, 2024

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