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NM_001037984.3(SLC38A10):c.1252G>A (p.Glu418Lys) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 25, 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:
RCV004208052.1

Allele description [Variation Report for NM_001037984.3(SLC38A10):c.1252G>A (p.Glu418Lys)]

NM_001037984.3(SLC38A10):c.1252G>A (p.Glu418Lys)

Gene:
SLC38A10:solute carrier family 38 member 10 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q25.3
Genomic location:
Preferred name:
NM_001037984.3(SLC38A10):c.1252G>A (p.Glu418Lys)
HGVS:
  • NC_000017.11:g.81260274C>T
  • NM_001037984.3:c.1252G>AMANE SELECT
  • NM_138570.4:c.1252G>A
  • NP_001033073.1:p.Glu418Lys
  • NP_612637.1:p.Glu418Lys
  • NC_000017.10:g.79234074C>T
  • NM_001037984.1:c.1252G>A
Protein change:
E418K
Molecular consequence:
  • NM_001037984.3:c.1252G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_138570.4:c.1252G>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
SCV003714955Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Apr 25, 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, SCV003714955.2

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

Description

The c.1252G>A (p.E418K) alteration is located in exon 11 (coding exon 11) of the SLC38A10 gene. This alteration results from a G to A substitution at nucleotide position 1252, causing the glutamic acid (E) at amino acid position 418 to be replaced by a lysine (K). 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: Oct 26, 2024