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NM_001135146.2(SLC39A8):c.1097dup (p.Leu366fs) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 15, 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:
RCV000497410.1

Allele description [Variation Report for NM_001135146.2(SLC39A8):c.1097dup (p.Leu366fs)]

NM_001135146.2(SLC39A8):c.1097dup (p.Leu366fs)

Genes:
LOC126807125:MED14-independent group 3 enhancer GRCh37_chr4:103188587-103189786 [Gene]
SLC39A8:solute carrier family 39 member 8 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
4q24
Genomic location:
Preferred name:
NM_001135146.2(SLC39A8):c.1097dup (p.Leu366fs)
HGVS:
  • NC_000004.12:g.102267627dup
  • NG_047177.1:g.82873dup
  • NM_001135146.2:c.1097dupMANE SELECT
  • NM_001135147.1:c.1097dup
  • NM_001135148.2:c.896dup
  • NM_022154.5:c.1097dup
  • NP_001128618.1:p.Leu366fs
  • NP_001128619.1:p.Leu366fs
  • NP_001128620.1:p.Leu299fs
  • NP_071437.3:p.Leu366fs
  • NC_000004.11:g.103188784dup
  • NM_022154.5:c.1097dupT
Protein change:
L299fs
Links:
dbSNP: rs1553911693
NCBI 1000 Genomes Browser:
rs1553911693
Molecular consequence:
  • NM_001135146.2:c.1097dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001135147.1:c.1097dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001135148.2:c.896dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_022154.5:c.1097dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000590705GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Jun 15, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000590705.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.1097dupT variant in the SLC39A8 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1097dupT variant causes a frameshift starting with codon Leucine 366, changes this amino acid to a Phenylalanine residue, and creates a premature Stop codon at position 52 of the new reading frame, denoted p.Leu366PhefsX52. This variant is predicted to cause loss of normal protein function through protein truncation. The c.1097dupT variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.1097dupT as a variant of uncertain significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 16, 2024