NM_006950.3(SYN1):c.1961G>A (p.Gly654Glu) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 8, 2014
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:: RCV000189662.1

Allele description [Variation Report for NM_006950.3(SYN1):c.1961G>A (p.Gly654Glu)]

NM_006950.3(SYN1):c.1961G>A (p.Gly654Glu)

Gene:

SYN1:synapsin I [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp11.3

Genomic location:

Preferred name:

NM_006950.3(SYN1):c.1961G>A (p.Gly654Glu)

Other names:

p.G654E:GGA>GAA

HGVS:

NC_000023.11:g.47574023C>T
NG_008437.1:g.50835G>A
NM_006950.3:c.1961G>AMANE SELECT
NM_133499.2:c.1961G>A
NP_008881.2:p.Gly654Glu
NP_598006.1:p.Gly654Glu
NC_000023.10:g.47433422C>T

Protein change:

G654E

Links:

dbSNP: rs749342768

NCBI 1000 Genomes Browser:

rs749342768

Molecular consequence:

NM_006950.3:c.1961G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_133499.2:c.1961G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000243308	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Uncertain significance (Jul 8, 2014)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000243308

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Uncertain significance
(Jul 8, 2014)

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	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000243308.11

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

Description

p.Gly654Glu (GGA>GAA): c.1961 G>A in exon 12 of the SYN1 gene (NM_133499.2) A variant of unknown significance has been identified in the SYN1 gene. The G654E variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It was not observed in approximately 5,800 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The G654E variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. However, this substitution occurs at a position that is not conserved across species, and in silico analysis predicts this variant likely does not alter the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in EPILEPSY panel(s).

#	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		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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