NM_001614.5(ACTG1):c.259C>T (p.His87Tyr) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 5, 2017
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:: RCV000756961.8

Allele description [Variation Report for NM_001614.5(ACTG1):c.259C>T (p.His87Tyr)]

NM_001614.5(ACTG1):c.259C>T (p.His87Tyr)

Gene:

ACTG1:actin gamma 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q25.3

Genomic location:

Preferred name:

NM_001614.5(ACTG1):c.259C>T (p.His87Tyr)

HGVS:

NC_000017.11:g.81512007G>A
NG_011433.1:g.5795C>T
NM_001199954.3:c.259C>T
NM_001614.5:c.259C>TMANE SELECT
NP_001186883.1:p.His87Tyr
NP_001605.1:p.His87Tyr
NC_000017.10:g.79479033G>A
NM_001614.3:c.259C>T
NR_037688.3:n.331C>T

Protein change:

H87Y

Links:

dbSNP: rs1568062594

NCBI 1000 Genomes Browser:

rs1568062594

Molecular consequence:

NM_001199954.3:c.259C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001614.5:c.259C>T - missense variant - [Sequence Ontology: SO:0001583]
NR_037688.3:n.331C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000884965	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process)	Uncertain significance (Sep 5, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000884965

ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)

Uncertain significance
(Sep 5, 2017)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV000884965.1

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

Description

The p.His87Tyr variant has not been reported in the medical literature, gene specific variation databases, nor has it been previously identified by our laboratory. It is absent from general population databases such as 1000 Genomes, NHLBI GO Exome Sequencing Project (ESP), and the genome Aggregation Database (gnomAD) browser. The histidine at position 87 is highly conserved and computational analyses of the effects of the p.His87Tyr variant on protein structure and function predict a deleterious effect (SIFT: damaging, MutationTaster: disease causing, PolyPhen-2: probably damaging). Altogether, there is not enough evidence to classify the p.His87Tyr variant with certainty.

#	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

Last Updated: May 1, 2024

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