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NM_001321133.2(GOSR2):c.750A>G (p.Leu250=) AND not provided

Germline classification:
Benign (2 submissions)
Last evaluated:
Apr 1, 2024
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV003334202.7

Allele description [Variation Report for NM_001321133.2(GOSR2):c.750A>G (p.Leu250=)]

NM_001321133.2(GOSR2):c.750A>G (p.Leu250=)

Genes:
GOSR2:golgi SNAP receptor complex member 2 [Gene - OMIM - HGNC]
LRRC37A2:leucine rich repeat containing 37 member A2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.32
Genomic location:
Preferred name:
NM_001321133.2(GOSR2):c.750A>G (p.Leu250=)
HGVS:
  • NC_000017.11:g.46966700A>G
  • NG_031806.3:g.48542A>G
  • NM_001321133.2:c.750A>G
  • NP_001308062.1:p.Leu250=
  • NC_000017.10:g.45044066A>G
  • NG_031806.2:g.48581A>G
  • NR_148349.2:n.1988A>G
  • NR_148350.2:n.1847A>G
  • NR_148351.2:n.1338A>G
Molecular consequence:
  • NR_148349.2:n.1988A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148350.2:n.1847A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148351.2:n.1338A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001321133.2:c.750A>G - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
16

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004042005CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)		Benign
(Apr 1, 2024) 		germlineclinical testing

Citation Link,

SCV004564818ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2024)		Benign
(Nov 14, 2023) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes16not providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV004042005.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided16not providednot providedclinical testingnot provided

Description

GOSR2: BP4, BP7, BS1, BS2

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided16not providednot providednot provided

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV004564818.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 26, 2024