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NM_000360.4(TH):c.16G>A (p.Ala6Thr) AND not specified

Germline classification:
Benign (1 submission)
Last evaluated:
Feb 18, 2022
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:
RCV001844099.2

Allele description [Variation Report for NM_000360.4(TH):c.16G>A (p.Ala6Thr)]

NM_000360.4(TH):c.16G>A (p.Ala6Thr)

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.16G>A (p.Ala6Thr)
HGVS:
  • NC_000011.10:g.2171771C>T
  • NG_008128.1:g.5035G>A
  • NM_000360.4:c.16G>AMANE SELECT
  • NM_199292.3:c.16G>A
  • NM_199293.3:c.16G>A
  • NP_000351.2:p.Ala6Thr
  • NP_954986.2:p.Ala6Thr
  • NP_954987.2:p.Ala6Thr
  • NC_000011.9:g.2193001C>T
  • NM_000360.3:c.16G>A
  • NM_199292.2:c.16G>A
Protein change:
A6T
Links:
dbSNP: rs74555599
NCBI 1000 Genomes Browser:
rs74555599
Molecular consequence:
  • NM_000360.4:c.16G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_199292.3:c.16G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_199293.3:c.16G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002104131Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Benign
(Feb 18, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV002104131.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Variant summary: TH c.16G>A (p.Ala6Thr) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.0042 in 246498 control chromosomes in the gnomAD database, including 7 homozygotes. The observed variant frequency is approximately 3.8 fold of the estimated maximal expected allele frequency for a pathogenic variant in TH causing Segawa Syndrome, Autosomal Recessive phenotype (0.0011), strongly suggesting that the variant is benign. Seven clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 and a predominant consensus as benign/likely benign. Based on the evidence outlined above, the variant was classified as benign.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 20, 2024