NM_005159.5(ACTC1):c.268C>T (p.His90Tyr) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 25, 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:: RCV004018647.1

Allele description [Variation Report for NM_005159.5(ACTC1):c.268C>T (p.His90Tyr)]

NM_005159.5(ACTC1):c.268C>T (p.His90Tyr)

Genes:

GJD2-DT:GJD2 divergent transcript [Gene - HGNC]
ACTC1:actin alpha cardiac muscle 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q14

Genomic location:

Preferred name:

NM_005159.5(ACTC1):c.268C>T (p.His90Tyr)

Other names:

p.H90Y:CAC>TAC

HGVS:

NC_000015.10:g.34793431G>A
NG_007553.1:g.7296C>T
NM_005159.5:c.268C>TMANE SELECT
NP_005150.1:p.His90Tyr
LRG_388t1:c.268C>T
LRG_388:g.7296C>T
NC_000015.9:g.35085632G>A
NM_005159.4:c.268C>T
P68032:p.His90Tyr
c.268C>T

Protein change:

H90Y; HIS90TYR

Links:

UniProtKB: P68032#VAR_045924; OMIM: 102540.0004; dbSNP: rs121912676

NCBI 1000 Genomes Browser:

rs121912676

Molecular consequence:

NM_005159.5:c.268C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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Hipk4 homeodomain interacting protein kinase 4 [Mus musculus]
Hipk4 homeodomain interacting protein kinase 4 [Mus musculus]
Gene ID:233020

Gene
233020[uid] AND (alive[prop]) (1)
Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004922034	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Oct 25, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004922034

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Oct 25, 2022)

germline

clinical testing

Citation Link

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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 Ambry Genetics, SCV004922034.1

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

Description

The c.268C>T (p.H90Y) alteration is located in exon 3 (coding exon 2) of the ACTC1 gene. This alteration results from a C to T substitution at nucleotide position 268, causing the histidine (H) at amino acid position 90 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	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: Sep 29, 2024

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