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NM_006950.3(SYN1):c.1943C>T (p.Ala648Val) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 6, 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:
RCV000189661.2

Allele description [Variation Report for NM_006950.3(SYN1):c.1943C>T (p.Ala648Val)]

NM_006950.3(SYN1):c.1943C>T (p.Ala648Val)

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.1943C>T (p.Ala648Val)
Other names:
p.A648V:GCC>GTC
HGVS:
  • NC_000023.11:g.47574041G>A
  • NG_008437.1:g.50817C>T
  • NM_006950.3:c.1943C>TMANE SELECT
  • NM_133499.2:c.1943C>T
  • NP_008881.2:p.Ala648Val
  • NP_598006.1:p.Ala648Val
  • NC_000023.10:g.47433440G>A
Protein change:
A648V
Links:
dbSNP: rs796053397
NCBI 1000 Genomes Browser:
rs796053397
Molecular consequence:
  • NM_006950.3:c.1943C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133499.2:c.1943C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000243307GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Feb 6, 2014) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000243307.10

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

Description

The A648V missense change in the SYN1 gene 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 4,600 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This variant is a conservative substitution of one uncharged, non-polar amino acid for another at a position that is not conserved across species. However, in silico analysis is inconsistent with regard to the effect this variant may have on the protein structure/function. The possibility that A648V is a disease-associated mutation cannot be excluded, since mutations in SYN1 are inherited in an X-linked manner and heterozygous female carriers of SYN1 mutations may be unaffected (Garcia et al., 2004) The variant is found in EPILEPSY panel(s).

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

Last Updated: Sep 29, 2024