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NM_004287.5(GOSR2):c.104A>G (p.Asn35Ser) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 25, 2018
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:
RCV000658311.1

Allele description [Variation Report for NM_004287.5(GOSR2):c.104A>G (p.Asn35Ser)]

NM_004287.5(GOSR2):c.104A>G (p.Asn35Ser)

Genes:
LOC126862578:BRD4-independent group 4 enhancer GRCh37_chr17:45008344-45009543 [Gene]
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.104A>G (p.Asn35Ser)
HGVS:
  • NC_000017.11:g.46931108A>G
  • NG_031806.2:g.12989A>G
  • NM_001012511.3:c.104A>G
  • NM_001321133.2:c.104A>G
  • NM_001321134.2:c.50A>G
  • NM_001330252.2:c.104A>G
  • NM_001353114.2:c.101A>G
  • NM_001353115.2:c.101A>G
  • NM_001353116.2:c.101A>G
  • NM_001363851.2:c.50A>G
  • NM_004287.5:c.104A>GMANE SELECT
  • NM_054022.4:c.104A>G
  • NP_001012529.1:p.Asn35Ser
  • NP_001308062.1:p.Asn35Ser
  • NP_001308063.1:p.Asn17Ser
  • NP_001317181.1:p.Asn35Ser
  • NP_001340043.1:p.Asn34Ser
  • NP_001340044.1:p.Asn34Ser
  • NP_001340045.1:p.Asn34Ser
  • NP_001350780.1:p.Asn17Ser
  • NP_004278.2:p.Asn35Ser
  • NP_473363.1:p.Asn35Ser
  • NC_000017.10:g.45008474A>G
  • NM_004287.3:c.104A>G
  • NR_148349.2:n.137A>G
  • NR_148350.2:n.137A>G
  • NR_148351.2:n.137A>G
Protein change:
N17S
Links:
dbSNP: rs148962223
NCBI 1000 Genomes Browser:
rs148962223
Molecular consequence:
  • NM_001012511.3:c.104A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321133.2:c.104A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321134.2:c.50A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330252.2:c.104A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353114.2:c.101A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353115.2:c.101A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353116.2:c.101A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363851.2:c.50A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004287.5:c.104A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_054022.4:c.104A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_148349.2:n.137A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148350.2:n.137A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148351.2:n.137A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV000780083GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(May 25, 2018) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000780083.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

A variant of uncertain significance has been identified in the GOSR2 gene. The N35S variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). However, the N35S variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Furthermore, in-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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

Last Updated: Sep 29, 2024