NM_014391.3(ANKRD1):c.197G>A (p.Arg66Gln) AND Cardiovascular phenotype

Germline classification:: Likely benign (1 submission)
Last evaluated:: Feb 22, 2018
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:: RCV000249347.5

Allele description [Variation Report for NM_014391.3(ANKRD1):c.197G>A (p.Arg66Gln)]

NM_014391.3(ANKRD1):c.197G>A (p.Arg66Gln)

Gene:

ANKRD1:ankyrin repeat domain 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q23.31

Genomic location:

Preferred name:

NM_014391.3(ANKRD1):c.197G>A (p.Arg66Gln)

Other names:

p.R66Q:CGA>CAA

HGVS:

NC_000010.11:g.90920179C>T
NG_023227.1:g.6097G>A
NM_014391.3:c.197G>AMANE SELECT
NP_055206.2:p.Arg66Gln
NP_055206.2:p.Arg66Gln
LRG_379t1:c.197G>A
LRG_379:g.6097G>A
LRG_379p1:p.Arg66Gln
NC_000010.10:g.92679936C>T
NM_014391.2:c.197G>A
c.197G>A

Protein change:

R66Q

Links:

dbSNP: rs150797476

NCBI 1000 Genomes Browser:

rs150797476

Molecular consequence:

NM_014391.3:c.197G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000318813	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Likely benign (Feb 22, 2018)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 19525294, 23861362, 24503780 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000318813

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Likely benign
(Feb 22, 2018)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

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

Citations

PubMed

Mutations in the ANKRD1 gene encoding CARP are responsible for human dilated cardiomyopathy.

Duboscq-Bidot L, Charron P, Ruppert V, Fauchier L, Richter A, Tavazzi L, Arbustini E, Wichter T, Maisch B, Komajda M, Isnard R, Villard E; EUROGENE Heart Failure Network..

Eur Heart J. 2009 Sep;30(17):2128-36. doi: 10.1093/eurheartj/ehp225. Epub 2009 Jun 12.

PubMed [citation]

PMID:: 19525294

Interpreting secondary cardiac disease variants in an exome cohort.

Ng D, Johnston JJ, Teer JK, Singh LN, Peller LC, Wynter JS, Lewis KL, Cooper DN, Stenson PD, Mullikin JC, Biesecker LG; NIH Intramural Sequencing Center (NISC) Comparative Sequencing Program..

Circ Cardiovasc Genet. 2013 Aug;6(4):337-46. doi: 10.1161/CIRCGENETICS.113.000039. Epub 2013 Jul 16.

PubMed [citation]

PMID:: 23861362
PMCID:: PMC3887521

See all PubMed Citations (3)

Details of each submission

From Ambry Genetics, SCV000318813.7

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

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.

#	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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