NM_006950.3(SYN1):c.1970A>C (p.His657Pro) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 3, 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:: RCV001267394.2

Allele description [Variation Report for NM_006950.3(SYN1):c.1970A>C (p.His657Pro)]

NM_006950.3(SYN1):c.1970A>C (p.His657Pro)

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.1970A>C (p.His657Pro)

HGVS:

NC_000023.11:g.47574014T>G
NG_008437.1:g.50844A>C
NM_006950.3:c.1970A>CMANE SELECT
NM_133499.2:c.1970A>C
NP_008881.2:p.His657Pro
NP_598006.1:p.His657Pro
NC_000023.10:g.47433413T>G

Protein change:

H657P

Links:

dbSNP: rs992542097

NCBI 1000 Genomes Browser:

rs992542097

Molecular consequence:

NM_006950.3:c.1970A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_133499.2:c.1970A>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

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
SCV001445575	Ambry Genetics	criteria provided, single submitter (Ambry exome assertion method (8-5-2015))	Uncertain significance (Jul 3, 2018)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001445575

Ambry Genetics

criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))

Uncertain significance
(Jul 3, 2018)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Caucasian	germline	yes	1	not provided	not provided	1	not provided	clinical testing

Citations

PubMed

Molecular determinants of synapsin targeting to presynaptic terminals.

Gitler D, Xu Y, Kao HT, Lin D, Lim S, Feng J, Greengard P, Augustine GJ.

J Neurosci. 2004 Apr 7;24(14):3711-20.

PubMed [citation]

PMID:: 15071120
PMCID:: PMC6729754

Details of each submission

From Ambry Genetics, SCV001445575.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Caucasian	1	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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