NM_133642.5(LARGE1):c.1611G>A (p.Glu537=) AND not provided

Germline classification:: Conflicting classifications of pathogenicity (2 submissions)
Last evaluated:: Aug 1, 2022
Review status:: criteria provided, conflicting classifications

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:: RCV000726777.22

Allele description [Variation Report for NM_133642.5(LARGE1):c.1611G>A (p.Glu537=)]

NM_133642.5(LARGE1):c.1611G>A (p.Glu537=)

Gene:

LARGE1:LARGE xylosyl- and glucuronyltransferase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q12.3

Genomic location:

Preferred name:

NM_133642.5(LARGE1):c.1611G>A (p.Glu537=)

HGVS:

NC_000022.11:g.33304348C>T
NG_009929.2:g.621081G>A
NM_001362949.2:c.1611G>A
NM_001362951.2:c.1611G>A
NM_001362953.2:c.1611G>A
NM_001378624.1:c.1611G>A
NM_001378625.1:c.1611G>A
NM_001378626.1:c.1611G>A
NM_001378627.1:c.1611G>A
NM_001378628.1:c.1611G>A
NM_001378629.1:c.1455G>A
NM_001378630.1:c.1008G>A
NM_001378631.1:c.852G>A
NM_004737.7:c.1611G>A
NM_133642.5:c.1611G>AMANE SELECT
NP_001349878.1:p.Glu537=
NP_001349880.1:p.Glu537=
NP_001349882.1:p.Glu537=
NP_001365553.1:p.Glu537=
NP_001365554.1:p.Glu537=
NP_001365555.1:p.Glu537=
NP_001365556.1:p.Glu537=
NP_001365557.1:p.Glu537=
NP_001365558.1:p.Glu485=
NP_001365559.1:p.Glu336=
NP_001365560.1:p.Glu284=
NP_004728.1:p.Glu537=
NP_598397.1:p.Glu537=
LRG_856t1:c.1611G>A
LRG_856t2:c.1611G>A
LRG_856:g.621081G>A
LRG_856p1:p.Glu537=
LRG_856p2:p.Glu537=
NC_000022.10:g.33700334C>T
NM_004737.4:c.1611G>A

Links:

dbSNP: rs372629986

NCBI 1000 Genomes Browser:

rs372629986

Molecular consequence:

NM_001362949.2:c.1611G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001362951.2:c.1611G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001362953.2:c.1611G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001378624.1:c.1611G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001378625.1:c.1611G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001378626.1:c.1611G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001378627.1:c.1611G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001378628.1:c.1611G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001378629.1:c.1455G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001378630.1:c.1008G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001378631.1:c.852G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_004737.7:c.1611G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_133642.5:c.1611G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

Condition(s)

Synonyms:: none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000702974	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Uncertain significance (Dec 1, 2016)	germline	clinical testing	Citation Link,
SCV004147759	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Likely benign (Aug 1, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000702974

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Uncertain significance
(Dec 1, 2016)

germline

clinical testing

Citation Link,

SCV004147759

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Likely benign
(Aug 1, 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	1	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000702974.3

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

#	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		1	not provided	not provided	not provided

From CeGaT Center for Human Genetics Tuebingen, SCV004147759.12

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

Description

LARGE1: BP4, BP7

#	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		1	not provided	not provided	not provided

Last Updated: Apr 13, 2025

ClinVar

Relating variation to medicine