NM_003705.5(SLC25A12):c.2015del (p.Ala672fs) AND Seizure

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 26, 2020
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:: RCV001256129.1

Allele description [Variation Report for NM_003705.5(SLC25A12):c.2015del (p.Ala672fs)]

NM_003705.5(SLC25A12):c.2015del (p.Ala672fs)

Gene:

SLC25A12:solute carrier family 25 member 12 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

2q31.1

Genomic location:

Preferred name:

NM_003705.5(SLC25A12):c.2015del (p.Ala672fs)

HGVS:

NC_000002.12:g.171785296del
NG_011781.2:g.114008del
NM_003705.3:c.2015delC
NM_003705.5:c.2015delMANE SELECT
NP_003696.2:p.Ala672fs
NC_000002.11:g.172641806del
NM_003705.4:c.2015del
NM_003705.4:c.2015delC
NR_047549.2:n.1929del

Protein change:

A672fs

Links:

dbSNP: rs780650245

NCBI 1000 Genomes Browser:

rs780650245

Molecular consequence:

NM_003705.5:c.2015del - frameshift variant - [Sequence Ontology: SO:0001589]
NR_047549.2:n.1929del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

Condition(s)

Name:: Seizure
Synonyms:: Seizures
Identifiers:: MedGen: C0036572; Human Phenotype Ontology: HP:0001250

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001432917	New York Genome Center - CSER-NYCKidSeq	criteria provided, single submitter (NYGC Assertion Criteria 2020)	Uncertain significance (Mar 26, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001432917

New York Genome Center - CSER-NYCKidSeq

criteria provided, single submitter

(NYGC Assertion Criteria 2020)

Uncertain significance
(Mar 26, 2020)

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	1	not provided	not provided	1	not provided	clinical testing

Details of each submission

From New York Genome Center - CSER-NYCKidSeq, SCV001432917.1

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

#	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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