NM_021082.4(SLC15A2):c.965G>A (p.Arg322Gln) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 17, 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:: RCV004300653.1

Allele description [Variation Report for NM_021082.4(SLC15A2):c.965G>A (p.Arg322Gln)]

NM_021082.4(SLC15A2):c.965G>A (p.Arg322Gln)

Gene:

SLC15A2:solute carrier family 15 member 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q13.33

Genomic location:

Preferred name:

NM_021082.4(SLC15A2):c.965G>A (p.Arg322Gln)

HGVS:

NC_000003.12:g.121923229G>A
NM_001145998.2:c.872G>A
NM_021082.4:c.965G>AMANE SELECT
NP_001139470.1:p.Arg291Gln
NP_066568.3:p.Arg322Gln
NC_000003.11:g.121642076G>A
NM_021082.3:c.965G>A

Protein change:

R291Q

Molecular consequence:

NM_001145998.2:c.872G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_021082.4:c.965G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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Homo sapiens cDNA FLJ54300 complete cds, highly similar to Homo sapiens queuine ...
Homo sapiens cDNA FLJ54300 complete cds, highly similar to Homo sapiens queuine tRNA-ribosyltransferase domain containing 1 (QTRTD1), mRNA
gi|221042641|dbj|AK299313.1|

Nucleotide
Homo sapiens mitochondrial poly(A) polymerase (MTPAP), RefSeqGene on chromosome ...
Homo sapiens mitochondrial poly(A) polymerase (MTPAP), RefSeqGene on chromosome 10; nuclear gene for mitochondrial product
gi|319803044|ref|NG_028096.1|

Nucleotide
homeobox protein Hox-B9 [Homo sapiens]
homeobox protein Hox-B9 [Homo sapiens]
gi|15029508|ref|NP_076922.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003961906	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Mar 17, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003961906

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Mar 17, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV003961906.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The c.965G>A (p.R322Q) alteration is located in exon 11 (coding exon 11) of the SLC15A2 gene. This alteration results from a G to A substitution at nucleotide position 965, causing the arginine (R) at amino acid position 322 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 10, 2024

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