NM_000360.4(TH):c.720G>A (p.Lys240=) AND not provided

Germline classification:: Benign (3 submissions)
Last evaluated:: Apr 14, 2017
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000710271.5

Allele description [Variation Report for NM_000360.4(TH):c.720G>A (p.Lys240=)]

NM_000360.4(TH):c.720G>A (p.Lys240=)

Gene:

TH:tyrosine hydroxylase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.5

Genomic location:

Preferred name:

NM_000360.4(TH):c.720G>A (p.Lys240=)

HGVS:

NC_000011.10:g.2167008C>T
NG_008128.1:g.9798G>A
NM_000360.4:c.720G>AMANE SELECT
NM_199292.3:c.813G>A
NM_199293.3:c.801G>A
NP_000351.2:p.Lys240=
NP_954986.2:p.Lys271=
NP_954987.2:p.Lys267=
NC_000011.9:g.2188238C>T
NM_000360.3:c.720G>A
NM_199292.2:c.813G>A

Links:

dbSNP: rs6357

NCBI 1000 Genomes Browser:

rs6357

Molecular consequence:

NM_000360.4:c.720G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_199292.3:c.813G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_199293.3:c.801G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

apoptosis-inducing factor 3 isoform 2 [Homo sapiens]
apoptosis-inducing factor 3 isoform 2 [Homo sapiens]
gi|65787454|ref|NP_001018070.1|

Protein

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
SCV000677520	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Benign (Apr 14, 2017)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 18554280, 26467025
SCV001750930	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Benign (Mar 3, 2015)	germline	clinical testing	Citation Link,
SCV005321295	Breakthrough Genomics, Breakthrough Genomics	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign	germline	not provided	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000677520

Athena Diagnostics

criteria provided, single submitter

(Athena Diagnostics Criteria)

Benign
(Apr 14, 2017)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

SCV001750930

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Benign
(Mar 3, 2015)

germline

clinical testing

Citation Link,

SCV005321295

Breakthrough Genomics, Breakthrough Genomics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign

germline

not provided

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, not provided
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Molecular analyses of GCH-1, TH and parkin genes in Chinese dopa-responsive dystonia families.

Wu ZY, Lin Y, Chen WJ, Zhao GX, Xie H, Murong SX, Wang N.

Clin Genet. 2008 Dec;74(6):513-21. doi: 10.1111/j.1399-0004.2008.01039.x. Epub 2008 Jun 11.

PubMed [citation]

PMID:: 18554280

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]

PMID:: 26467025
PMCID:: PMC4737317

See all PubMed Citations (3)

Details of each submission

From Athena Diagnostics, SCV000677520.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

#	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

From GeneDx, SCV001750930.1

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

#	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

From Breakthrough Genomics, Breakthrough Genomics, SCV005321295.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	not provided	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: Sep 29, 2024

ClinVar

Relating variation to medicine