NM_014391.3(ANKRD1):c.346-19_346-18del AND Cardiomyopathy

This record was updated by the submitter. Please see the current version.

Germline classification:: Benign (1 submission)
Last evaluated:: Jul 15, 2013
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:: RCV000183284.1

Allele description

NM_014391.3(ANKRD1):c.346-19_346-18del

Gene:

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

Variant type:

Deletion

Cytogenetic location:

10q23.31

Genomic location:

Preferred name:

NM_014391.3(ANKRD1):c.346-19_346-18del

HGVS:

NC_000010.11:g.90918991_90918992del
NG_023227.1:g.7285_7286del
NM_014391.3:c.346-19_346-18delMANE SELECT
LRG_379:g.7285_7286del
NC_000010.10:g.92678747_92678748del
NC_000010.10:g.92678748_92678749del
NM_014391.2:c.346-19_346-18delTT
NM_014391.2:c.346-20_346-19delTT

Links:

dbSNP: rs398014415

NCBI 1000 Genomes Browser:

rs398014415

Molecular consequence:

NM_014391.3:c.346-19_346-18del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Cardiomyopathy (CMYO)
Synonyms:: Cardiomyopathies
Identifiers:: MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000235711	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Benign (Jul 15, 2013)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000235711

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Benign
(Jul 15, 2013)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000235711.2

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

Description

The variant is found in DCM panel(s).

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

Last Updated: Apr 1, 2023

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