NM_024306.5(FA2H):c.949T>G (p.Tyr317Asp) AND multiple conditions

Germline classification:: Likely pathogenic (1 submission)
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:: RCV001003615.1

Allele description [Variation Report for NM_024306.5(FA2H):c.949T>G (p.Tyr317Asp)]

NM_024306.5(FA2H):c.949T>G (p.Tyr317Asp)

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.949T>G (p.Tyr317Asp)

HGVS:

NC_000016.10:g.74716437A>C
NG_017070.1:g.63395T>G
NM_024306.5:c.949T>GMANE SELECT
NP_077282.3:p.Tyr317Asp
NC_000016.9:g.74750335A>C

Protein change:

Y317D

Links:

dbSNP: rs1308764899

NCBI 1000 Genomes Browser:

rs1308764899

Molecular consequence:

NM_024306.5:c.949T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cerebellar atrophy
Identifiers:: MedGen: C0740279; Human Phenotype Ontology: HP:0001272

Name:: Tip-toe gait
Synonyms:: Toe walking
Identifiers:: MedGen: C0427144; Human Phenotype Ontology: HP:0030051

Recent activity

Clear Turn Off Turn On

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
SCV001162026	NIHR Bioresource Rare Diseases, University of Cambridge	no assertion criteria provided	Likely pathogenic	unknown	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001162026

NIHR Bioresource Rare Diseases, University of Cambridge

no assertion criteria provided

Likely pathogenic

unknown

research

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	1	not provided	research

Citations

PubMed

Whole-genome sequencing of patients with rare diseases in a national health system.

Turro E, Astle WJ, Megy K, Gräf S, Greene D, Shamardina O, Allen HL, Sanchis-Juan A, Frontini M, Thys C, Stephens J, Mapeta R, Burren OS, Downes K, Haimel M, Tuna S, Deevi SVV, Aitman TJ, Bennett DL, Calleja P, Carss K, Caulfield MJ, et al.

Nature. 2020 Jul;583(7814):96-102. doi: 10.1038/s41586-020-2434-2. Epub 2020 Jun 24.

PubMed [citation]

PMID:: 32581362
PMCID:: PMC7610553

Details of each submission

From NIHR Bioresource Rare Diseases, University of Cambridge, SCV001162026.1

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

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

Last Updated: Feb 7, 2023

ClinVar

Relating variation to medicine