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NM_005159.5(ACTC1):c.231C>T (p.Ile77=) AND Cardiovascular phenotype

Germline classification:
Likely benign (1 submission)
Last evaluated:
May 17, 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:
RCV002448104.2

Allele description [Variation Report for NM_005159.5(ACTC1):c.231C>T (p.Ile77=)]

NM_005159.5(ACTC1):c.231C>T (p.Ile77=)

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.231C>T (p.Ile77=)
HGVS:
  • NC_000015.10:g.34793468G>A
  • NG_007553.1:g.7259C>T
  • NM_001406482.1:c.231C>T
  • NM_001406483.1:c.231C>T
  • NM_001406484.1:c.96C>T
  • NM_001406485.1:c.-158C>T
  • NM_005159.5:c.231C>TMANE SELECT
  • NP_001393411.1:p.Ile77=
  • NP_001393412.1:p.Ile77=
  • NP_001393413.1:p.Ile32=
  • NP_005150.1:p.Ile77=
  • NP_005150.1:p.Ile77=
  • LRG_388t1:c.231C>T
  • LRG_388:g.7259C>T
  • LRG_388p1:p.Ile77=
  • NC_000015.9:g.35085669G>A
  • NM_005159.4:c.231C>T
Molecular consequence:
  • NM_001406485.1:c.-158C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001406482.1:c.231C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406483.1:c.231C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406484.1:c.96C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_005159.5:c.231C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002734990Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(May 17, 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 Ambry Genetics, SCV002734990.2

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: May 1, 2024