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NM_014579.4(SLC39A2):c.430G>A (p.Ala144Thr) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 13, 2022
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:
RCV004074319.1

Allele description [Variation Report for NM_014579.4(SLC39A2):c.430G>A (p.Ala144Thr)]

NM_014579.4(SLC39A2):c.430G>A (p.Ala144Thr)

Gene:
SLC39A2:solute carrier family 39 member 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q11.2
Genomic location:
Preferred name:
NM_014579.4(SLC39A2):c.430G>A (p.Ala144Thr)
HGVS:
  • NC_000014.9:g.21001079G>A
  • NG_017065.1:g.6825G>A
  • NM_001256588.2:c.*167G>A
  • NM_014579.4:c.430G>AMANE SELECT
  • NP_055394.2:p.Ala144Thr
  • NC_000014.8:g.21469238G>A
  • NM_014579.3:c.430G>A
  • NR_033419.1:n.617G>A
Protein change:
A144T
Molecular consequence:
  • NM_001256588.2:c.*167G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_014579.4:c.430G>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
SCV003527278Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 13, 2022) 		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, SCV003527278.2

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

Description

The c.430G>A (p.A144T) alteration is located in exon 4 (coding exon 4) of the SLC39A2 gene. This alteration results from a G to A substitution at nucleotide position 430, causing the alanine (A) at amino acid position 144 to be replaced by a threonine (T). 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: Nov 10, 2024