NM_001010898.4(SLC6A17):c.1997A>T (p.Asn666Ile) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 16, 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:: RCV004149412.1

Allele description [Variation Report for NM_001010898.4(SLC6A17):c.1997A>T (p.Asn666Ile)]

NM_001010898.4(SLC6A17):c.1997A>T (p.Asn666Ile)

Gene:

SLC6A17:solute carrier family 6 member 17 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p13.3

Genomic location:

Preferred name:

NM_001010898.4(SLC6A17):c.1997A>T (p.Asn666Ile)

HGVS:

NC_000001.11:g.110198257A>T
NG_051945.1:g.52744A>T
NM_001010898.4:c.1997A>TMANE SELECT
NP_001010898.1:p.Asn666Ile
NC_000001.10:g.110740879A>T
NM_001010898.2:c.1997A>T

Protein change:

N666I

Molecular consequence:

NM_001010898.4:c.1997A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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threonine--tRNA ligase [Roseburia intestinalis]
threonine--tRNA ligase [Roseburia intestinalis]
gi|493909877|ref|WP_006855400.1|

Protein
uncharacterized protein HETIRDRAFT_452598 [Heterobasidion irregulare TC 32-1]
uncharacterized protein HETIRDRAFT_452598 [Heterobasidion irregulare TC 32-1]
gi|695559261|ref|XP_009547882.1|

Protein
PREDICTED: Homo sapiens luteinizing hormone/choriogonadotropin receptor (LHCGR),...
PREDICTED: Homo sapiens luteinizing hormone/choriogonadotropin receptor (LHCGR), transcript variant X2, mRNA
gi|2462573174|ref|XM_054342011.1|

Nucleotide
Halgania lavandulacea isolate 881 18S ribosomal RNA gene, partial sequence; and ...
Halgania lavandulacea isolate 881 18S ribosomal RNA gene, partial sequence; and internal transcribed spacer 1 and 5.8S ribosomal RNA gene, complete sequence
gi|571798623|gb|KF673255.1|

Nucleotide
Amphilophus hogaboomorum voucher stri-8926 cytochrome b gene, complete cds; mito...
Amphilophus hogaboomorum voucher stri-8926 cytochrome b gene, complete cds; mitochondrial
gi|62911992|gb|AY843433.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003635895	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Aug 16, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003635895

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Aug 16, 2022)

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, SCV003635895.2

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

Description

The c.1997A>T (p.N666I) alteration is located in exon 12 (coding exon 11) of the SLC6A17 gene. This alteration results from a A to T substitution at nucleotide position 1997, causing the asparagine (N) at amino acid position 666 to be replaced by an isoleucine (I). 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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