NM_024306.5(FA2H):c.910G>A (p.Gly304Ser) AND Hereditary spastic paraplegia 35

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Dec 18, 2018
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000786061.2

Allele description [Variation Report for NM_024306.5(FA2H):c.910G>A (p.Gly304Ser)]

NM_024306.5(FA2H):c.910G>A (p.Gly304Ser)

Gene:

FA2H:fatty acid 2-hydroxylase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q23.1

Genomic location:

Preferred name:

NM_024306.5(FA2H):c.910G>A (p.Gly304Ser)

HGVS:

NC_000016.10:g.74716476C>T
NG_017070.1:g.63356G>A
NM_024306.5:c.910G>AMANE SELECT
NP_077282.3:p.Gly304Ser
NC_000016.9:g.74750374C>T

Protein change:

G304S

Links:

dbSNP: rs1567632441

NCBI 1000 Genomes Browser:

rs1567632441

Molecular consequence:

NM_024306.5:c.910G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hereditary spastic paraplegia 35
Synonyms:: Leukodystrophy, dysmyelinating, and spastic paraparesis with or without dystonia; Spastic paraplegia 35; Spastic paraplegia 35, autosomal recessive; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0012866; MedGen: C3496228; Orphanet: 171629; OMIM: 612319

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000864392	Genetic Diseases Diagnostic Center, Koc University Hospital	no assertion criteria provided (ACMG Guidelines, 2015)	Likely pathogenic (Dec 18, 2018)	germline	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

SCV000864392

Genetic Diseases Diagnostic Center, Koc University Hospital

no assertion criteria provided

(ACMG Guidelines, 2015)

Likely pathogenic
(Dec 18, 2018)

germline

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	germline	yes	not provided	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 Genetic Diseases Diagnostic Center, Koc University Hospital, SCV000864392.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	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	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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