NM_001146262.4(SYT14):c.1495_1500del (p.Asn499_Pro500del) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 12, 2017
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:: RCV000713566.3

Allele description [Variation Report for NM_001146262.4(SYT14):c.1495_1500del (p.Asn499_Pro500del)]

NM_001146262.4(SYT14):c.1495_1500del (p.Asn499_Pro500del)

Gene:

SYT14:synaptotagmin 14 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

1q32.2

Genomic location:

Preferred name:

NM_001146262.4(SYT14):c.1495_1500del (p.Asn499_Pro500del)

HGVS:

NC_000001.11:g.210160812_210160817del
NG_031962.1:g.227639_227644del
NM_001146261.4:c.1630_1635del
NM_001146262.4:c.1495_1500delMANE SELECT
NM_001146264.4:c.1573_1578del
NM_001256006.3:c.1324_1329del
NM_001397544.1:c.2308_2313del
NM_001397545.1:c.2308_2313del
NM_153262.5:c.1438_1443del
NP_001139733.1:p.Asn544_Pro545del
NP_001139734.1:p.Asn499_Pro500del
NP_001139736.1:p.Asn525_Pro526del
NP_001242935.1:p.Asn442_Pro443del
NP_001384473.1:p.Asn770_Pro771del
NP_001384474.1:p.Asn770_Pro771del
NP_694994.2:p.Asn480_Pro481del
NC_000001.10:g.210334157_210334162del
NM_001146261.1:c.1630_1635del
NR_027459.3:n.1420_1425del

Links:

dbSNP: rs932441943

NCBI 1000 Genomes Browser:

rs932441943

Molecular consequence:

NM_001146261.4:c.1630_1635del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001146262.4:c.1495_1500del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001146264.4:c.1573_1578del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001256006.3:c.1324_1329del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001397544.1:c.2308_2313del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001397545.1:c.2308_2313del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_153262.5:c.1438_1443del - inframe_deletion - [Sequence Ontology: SO:0001822]
NR_027459.3:n.1420_1425del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

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
SCV000844190	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Uncertain significance (Oct 12, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000844190

Athena Diagnostics

criteria provided, single submitter

(Athena Diagnostics Criteria)

Uncertain significance
(Oct 12, 2017)

germline

clinical testing

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

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

Citations

PubMed

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]

PMID:: 26467025
PMCID:: PMC4737317

Details of each submission

From Athena Diagnostics, SCV000844190.1

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