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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:
1

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001432917New York Genome Center - CSER-NYCKidSeq
criteria provided, single submitter

(NYGC Assertion Criteria 2020)		Uncertain significance
(Mar 26, 2020) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1not providedclinical testing

Details of each submission

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

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024