NM_003080.3(SMPD2):c.394G>A (p.Ala132Thr) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 29, 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:: RCV004353151.1

Allele description [Variation Report for NM_003080.3(SMPD2):c.394G>A (p.Ala132Thr)]

NM_003080.3(SMPD2):c.394G>A (p.Ala132Thr)

Gene:

SMPD2:sphingomyelin phosphodiesterase 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6q21

Genomic location:

Preferred name:

NM_003080.3(SMPD2):c.394G>A (p.Ala132Thr)

HGVS:

NC_000006.12:g.109442285G>A
NG_042833.1:g.28684C>T
NM_003080.3:c.394G>AMANE SELECT
NP_003071.2:p.Ala132Thr
NC_000006.11:g.109763488G>A
NM_003080.2:c.394G>A

Protein change:

A132T

Molecular consequence:

NM_003080.3:c.394G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

Clear Turn Off Turn On

Saccharomyces cerevisiae S288C Vik1p (VIK1), partial mRNA
Saccharomyces cerevisiae S288C Vik1p (VIK1), partial mRNA
gi|296148407|ref|NM_001184067.1|

Nucleotide
Caenorhabditis elegans Ovule protein (F54C9.3), partial mRNA
Caenorhabditis elegans Ovule protein (F54C9.3), partial mRNA
gi|1831508720|ref|NM_063408.7|

Nucleotide
uncharacterized protein SPAPADRAFT_58853 [Spathaspora passalidarum NRRL Y-27907]
uncharacterized protein SPAPADRAFT_58853 [Spathaspora passalidarum NRRL Y-27907]
gi|598064459|ref|XP_007373058.1|

Protein
ahsa-1 Activator of Hsp90 ATPase AHSA1-like N-terminal domain-containing protein...
ahsa-1 Activator of Hsp90 ATPase AHSA1-like N-terminal domain-containing protein [Caenorhabditis elegans]
Gene ID:180017

Gene
F18G5.5 [Caenorhabditis elegans]
F18G5.5 [Caenorhabditis elegans]
Gene ID:184655

Gene

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004077940	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jun 29, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004077940

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jun 29, 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, SCV004077940.2

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

Description

The c.394G>A (p.A132T) alteration is located in exon 5 (coding exon 5) of the SMPD2 gene. This alteration results from a G to A substitution at nucleotide position 394, causing the alanine (A) at amino acid position 132 to be replaced by a threonine (T). 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 3, 2024

ClinVar

Relating variation to medicine