NM_000181.4(GUSB):c.1796C>T (p.Thr599Met) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 28, 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:: RCV003264376.2

Allele description [Variation Report for NM_000181.4(GUSB):c.1796C>T (p.Thr599Met)]

NM_000181.4(GUSB):c.1796C>T (p.Thr599Met)

Gene:

GUSB:glucuronidase beta [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q11.21

Genomic location:

Preferred name:

NM_000181.4(GUSB):c.1796C>T (p.Thr599Met)

HGVS:

NC_000007.14:g.65961057G>A
NG_016197.1:g.26258C>T
NG_051954.1:g.92959G>A
NM_000181.4:c.1796C>TMANE SELECT
NM_001284290.2:c.1358C>T
NM_001293104.2:c.1226C>T
NM_001293105.2:c.1139C>T
NP_000172.2:p.Thr599Met
NP_001271219.1:p.Thr453Met
NP_001280033.1:p.Thr409Met
NP_001280034.1:p.Thr380Met
NC_000007.13:g.65426044G>A
NM_000181.3:c.1796C>T
NR_120531.2:n.1741C>T

Protein change:

T380M

Links:

dbSNP: rs765983374

NCBI 1000 Genomes Browser:

rs765983374

Molecular consequence:

NM_000181.4:c.1796C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001284290.2:c.1358C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001293104.2:c.1226C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001293105.2:c.1139C>T - missense variant - [Sequence Ontology: SO:0001583]
NR_120531.2:n.1741C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003948450	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Mar 28, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003948450

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Mar 28, 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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV003948450.2

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

Description

The c.1796C>T (p.T599M) alteration is located in exon 12 (coding exon 12) of the GUSB gene. This alteration results from a C to T substitution at nucleotide position 1796, causing the threonine (T) at amino acid position 599 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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