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NM_012319.4(SLC39A6):c.1055T>A (p.Val352Glu) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 2, 2023
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:
RCV004461582.1

Allele description [Variation Report for NM_012319.4(SLC39A6):c.1055T>A (p.Val352Glu)]

NM_012319.4(SLC39A6):c.1055T>A (p.Val352Glu)

Gene:
SLC39A6:solute carrier family 39 member 6 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
18q12.2
Genomic location:
Preferred name:
NM_012319.4(SLC39A6):c.1055T>A (p.Val352Glu)
HGVS:
  • NC_000018.10:g.36123580A>T
  • NM_001099406.2:c.230T>A
  • NM_012319.4:c.1055T>AMANE SELECT
  • NP_001092876.1:p.Val77Glu
  • NP_036451.4:p.Val352Glu
  • NC_000018.9:g.33703543A>T
  • NM_012319.3:c.1055T>A
Protein change:
V352E
Molecular consequence:
  • NM_001099406.2:c.230T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_012319.4:c.1055T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004949759Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Nov 2, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV004949759.1

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

Description

The c.1055T>A (p.V352E) alteration is located in exon 4 (coding exon 3) of the SLC39A6 gene. This alteration results from a T to A substitution at nucleotide position 1055, causing the valine (V) at amino acid position 352 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: May 7, 2024