NM_005159.5(ACTC1):c.229A>G (p.Ile77Val) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 27, 2011
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:: RCV000038322.5

Allele description [Variation Report for NM_005159.5(ACTC1):c.229A>G (p.Ile77Val)]

NM_005159.5(ACTC1):c.229A>G (p.Ile77Val)

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.229A>G (p.Ile77Val)

HGVS:

NC_000015.10:g.34793470T>C
NG_007553.1:g.7257A>G
NM_005159.5:c.229A>GMANE SELECT
NP_005150.1:p.Ile77Val
LRG_388t1:c.229A>G
LRG_388:g.7257A>G
NC_000015.9:g.35085671T>C
NM_005159.4:c.229A>G
c.229A>G

Protein change:

I77V

Links:

dbSNP: rs397517056

NCBI 1000 Genomes Browser:

rs397517056

Molecular consequence:

NM_005159.5:c.229A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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
SCV000061991	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Uncertain significance (Dec 27, 2011)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000061991

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Uncertain significance
(Dec 27, 2011)

germline

clinical testing

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	not provided	1	1	not provided	not provided	not provided	clinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]

PMID:: 24033266
PMCID:: PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000061991.5

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

Description

The Ile77Val variant (ACTC) has not been previously reported. It has been seen i n one Caucasian proband with HCM out of >1400 Caucasian individuals tested by ou r laboratory. Isoleucine (Ile) at position 77 is highly conserved across evoluti onarily distant species, increasing the likelihood that a change would not be to lerated. Computational predictions on the impact to the protein are mixed (PolyP hen2 = benign, SIFT = pathogenic), though the accuracy of these tools is unknown . Additional information is needed to fully assess the clinical significance of the Ile77Val variant.

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

Last Updated: May 1, 2024

ClinVar

Relating variation to medicine