NM_014849.5(SV2A):c.934T>G (p.Trp312Gly) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 22, 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:: RCV004461274.1

Allele description [Variation Report for NM_014849.5(SV2A):c.934T>G (p.Trp312Gly)]

NM_014849.5(SV2A):c.934T>G (p.Trp312Gly)

Gene:

SV2A:synaptic vesicle glycoprotein 2A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q21.2

Genomic location:

Preferred name:

NM_014849.5(SV2A):c.934T>G (p.Trp312Gly)

HGVS:

NC_000001.11:g.149910847A>C
NG_050966.1:g.12036T>G
NG_092102.1:g.269A>C
NM_001328674.2:c.934T>G
NM_001328675.2:c.934T>G
NM_014849.5:c.934T>GMANE SELECT
NP_001315603.1:p.Trp312Gly
NP_001315604.1:p.Trp312Gly
NP_055664.3:p.Trp312Gly
NC_000001.10:g.149882399A>C
NM_014849.3:c.934T>G

Protein change:

W312G

Molecular consequence:

NM_001328674.2:c.934T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001328675.2:c.934T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_014849.5:c.934T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

Clear Turn Off Turn On

MULTISPECIES: 50S ribosomal protein L29 [Haloferax]
MULTISPECIES: 50S ribosomal protein L29 [Haloferax]
gi|490163764|ref|WP_004062417.1|

Protein
cytochrome oxidase subunit 1, partial (mitochondrion) [Zonotrichia capensis]
cytochrome oxidase subunit 1, partial (mitochondrion) [Zonotrichia capensis]
gi|197257454|gb|ACH55869.1|

Protein
Floccularia sp. DW-2024c voucher 13752 RNA polymerase II second largest subunit ...
Floccularia sp. DW-2024c voucher 13752 RNA polymerase II second largest subunit (RPB2) gene, partial cds
gi|2778270097|gb|PQ066199.1|

Nucleotide
Leucoagaricus leucothites isolate OMDL K. Canan iNaturalist # 184344703 small su...
Leucoagaricus leucothites isolate OMDL K. Canan iNaturalist # 184344703 small subunit ribosomal RNA gene, partial sequence; internal transcribed spacer 1, 5.8S ribosomal RNA gene, and internal transcribed spacer 2, complete sequence; and large subunit ribosomal RNA gene, partial sequence
gi|2802506977|gb|PQ316726.1|

Nucleotide
cytochrome b, partial (mitochondrion) [Pipra filicauda]
cytochrome b, partial (mitochondrion) [Pipra filicauda]
gi|2431426251|gb|WCB57084.1|

Protein

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
SCV004960276	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Sep 22, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004960276

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Sep 22, 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, SCV004960276.1

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

Description

The c.934T>G (p.W312G) alteration is located in exon 4 (coding exon 3) of the SV2A gene. This alteration results from a T to G substitution at nucleotide position 934, causing the tryptophan (W) at amino acid position 312 to be replaced by a glycine (G). 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: May 7, 2024

ClinVar

Relating variation to medicine