NM_004287.5(GOSR2):c.1A>G (p.Met1Val) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 20, 2019
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:: RCV002420834.8

Allele description [Variation Report for NM_004287.5(GOSR2):c.1A>G (p.Met1Val)]

NM_004287.5(GOSR2):c.1A>G (p.Met1Val)

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_004287.5(GOSR2):c.1A>G (p.Met1Val)

HGVS:

NC_000017.11:g.46923193A>G
NG_031806.2:g.5074A>G
NM_001012511.3:c.1A>G
NM_001321133.2:c.1A>G
NM_001321134.2:c.-102A>G
NM_001330252.2:c.1A>G
NM_001353114.2:c.1A>G
NM_001353115.2:c.1A>G
NM_001353116.2:c.1A>G
NM_001363851.2:c.-465A>G
NM_004287.5:c.1A>GMANE SELECT
NM_054022.4:c.1A>G
NP_001012529.1:p.Met1Val
NP_001308062.1:p.Met1Val
NP_001317181.1:p.Met1Val
NP_001340043.1:p.Met1Val
NP_001340044.1:p.Met1Val
NP_001340045.1:p.Met1Val
NP_004278.2:p.Met1Val
NP_473363.1:p.Met1Val
NC_000017.10:g.45000559A>G
NM_004287.3:c.1A>G
NR_148349.2:n.34A>G
NR_148350.2:n.34A>G
NR_148351.2:n.34A>G

Protein change:

M1V

Links:

dbSNP: rs879328855

NCBI 1000 Genomes Browser:

rs879328855

Molecular consequence:

NM_001321134.2:c.-102A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001363851.2:c.-465A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001012511.3:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_001321133.2:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_001330252.2:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_001353114.2:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_001353115.2:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_001353116.2:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_004287.5:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_054022.4:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_001012511.3:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001321133.2:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001330252.2:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353114.2:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353115.2:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353116.2:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_004287.5:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_054022.4:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
NR_148349.2:n.34A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148350.2:n.34A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148351.2:n.34A>G - 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
SCV002721809	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Sep 20, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002721809

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Sep 20, 2019)

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, SCV002721809.3

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

Description

The p.M1? variant (also known as c.1A>G) is located in coding exon 1 of the GOSR2 gene and results from a A to G substitution at nucleotide position 1. This alters the methionine residue at the initiation codon. Variations that modify the initiation codon (ATG) are expected to result in either loss of translation initiation, N-terminal truncation, or cause a shift in the mRNA reading frame; however, there is an alternate in-frame methionine 18 amino acids from the initiation site and the significance of the N-terminus for this protein is not well established. Since supporting evidence is limited at this time, the clinical significance 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: Nov 30, 2024

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