NM_018327.4(SPTLC3):c.130C>G (p.Pro44Ala) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 10, 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:: RCV004458106.1

Allele description [Variation Report for NM_018327.4(SPTLC3):c.130C>G (p.Pro44Ala)]

NM_018327.4(SPTLC3):c.130C>G (p.Pro44Ala)

Gene:

SPTLC3:serine palmitoyltransferase long chain base subunit 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20p12.1

Genomic location:

Preferred name:

NM_018327.4(SPTLC3):c.130C>G (p.Pro44Ala)

HGVS:

NC_000020.11:g.13048957C>G
NG_053155.1:g.44979C>G
NG_053155.2:g.44987C>G
NM_001349945.2:c.130C>G
NM_018327.4:c.130C>GMANE SELECT
NP_001336874.1:p.Pro44Ala
NP_060797.2:p.Pro44Ala
NC_000020.10:g.13029605C>G
NM_018327.2:c.130C>G

Protein change:

P44A

Molecular consequence:

NM_001349945.2:c.130C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_018327.4:c.130C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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RecName: Full=AA9 family lytic polysaccharide monooxygenase C; Short=LPMO9C; Alt...
RecName: Full=AA9 family lytic polysaccharide monooxygenase C; Short=LPMO9C; AltName: Full=Cellulase LPMO9C; AltName: Full=Endo-beta-1,4-glucanase LPMO9C; Short=Endoglucanase LPMO9C; AltName: Full=Glycosyl hydrolase 61 family protein LPMO9C; Flags: Precursor
gi|2706656510|sp|A0A0J9XK58.1|LP9C_

Protein
hypothetical protein DV113_005102 [Geotrichum candidum]
hypothetical protein DV113_005102 [Geotrichum candidum]
gi|1904841542|gb|KAF7496864.1||gnl| QZJ|g5110.t1.cds

Protein
Homo sapiens mirror-image polydactyly 1 (MIPOL1), RefSeqGene on chromosome 14
Homo sapiens mirror-image polydactyly 1 (MIPOL1), RefSeqGene on chromosome 14
gi|307133783|ref|NG_027724.1|

Nucleotide
Phytophthora sp. isolate 176P9 internal transcribed spacer 1, partial sequence; ...
Phytophthora sp. isolate 176P9 internal transcribed spacer 1, partial sequence; 5.8S ribosomal RNA gene, complete sequence; and internal transcribed spacer 2, partial sequence
gi|2675835662|gb|PP340075.1|

Nucleotide
Phytophthora sp. isolate NKST002 internal transcribed spacer 1, partial sequence...
Phytophthora sp. isolate NKST002 internal transcribed spacer 1, partial sequence; 5.8S ribosomal RNA gene and internal transcribed spacer 2, complete sequence; and large subunit ribosomal RNA gene, partial sequence
gi|2501410273|gb|OQ940455.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004957149	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Oct 10, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004957149

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Oct 10, 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, SCV004957149.1

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

Description

The c.130C>G (p.P44A) alteration is located in exon 2 (coding exon 2) of the SPTLC3 gene. This alteration results from a C to G substitution at nucleotide position 130, causing the proline (P) at amino acid position 44 to be replaced by an alanine (A). 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: May 7, 2024

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