NM_004733.4(SLC33A1):c.3G>A (p.Met1Ile) AND Spastic paraplegia

Germline classification:: Uncertain significance (1 submission)
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:: RCV001391480.1

Allele description [Variation Report for NM_004733.4(SLC33A1):c.3G>A (p.Met1Ile)]

NM_004733.4(SLC33A1):c.3G>A (p.Met1Ile)

Gene:

SLC33A1:solute carrier family 33 member 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q25.31

Genomic location:

Preferred name:

NM_004733.4(SLC33A1):c.3G>A (p.Met1Ile)

HGVS:

NC_000003.12:g.155853995C>T
NG_023365.1:g.5465G>A
NM_001190992.2:c.3G>A
NM_001363883.1:c.3G>A
NM_004733.4:c.3G>AMANE SELECT
NP_001177921.1:p.Met1Ile
NP_001350812.1:p.Met1Ile
NP_004724.1:p.Met1Ile
NC_000003.11:g.155571784C>T

Protein change:

M1I

Links:

dbSNP: rs2108019676

NCBI 1000 Genomes Browser:

rs2108019676

Molecular consequence:

NM_001190992.2:c.3G>A - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_001363883.1:c.3G>A - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_004733.4:c.3G>A - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_001190992.2:c.3G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001363883.1:c.3G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_004733.4:c.3G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Spastic paraplegia
Identifiers:: MedGen: C0037772; Human Phenotype Ontology: HP:0001258

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001451327	Paris Brain Institute, Inserm - ICM	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001451327

Paris Brain Institute, Inserm - ICM

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance

unknown

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Paris Brain Institute, Inserm - ICM, SCV001451327.2

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

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

Last Updated: Dec 24, 2023

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