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NM_018713.3(SLC30A10):c.585del (p.Thr196fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 9, 2016
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:
RCV000726453.4

Allele description [Variation Report for NM_018713.3(SLC30A10):c.585del (p.Thr196fs)]

NM_018713.3(SLC30A10):c.585del (p.Thr196fs)

Gene:
SLC30A10:solute carrier family 30 member 10 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_018713.3(SLC30A10):c.585del (p.Thr196fs)
HGVS:
  • NC_000001.11:g.219927860del
  • NG_032153.2:g.5796del
  • NM_001376929.1:c.452-751del
  • NM_018713.3:c.585delMANE SELECT
  • NP_061183.2:p.Thr196fs
  • NC_000001.10:g.220101202del
  • NR_046437.2:n.702del
Links:
OMIM: 611146.0003; dbSNP: rs281860288
NCBI 1000 Genomes Browser:
rs281860288
Molecular consequence:
  • NM_018713.3:c.585del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001376929.1:c.452-751del - intron variant - [Sequence Ontology: SO:0001627]
  • NR_046437.2:n.702del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000344755Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)		Pathogenic
(Aug 9, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000344755.4

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

Last Updated: Apr 1, 2023