NM_014391.3(ANKRD1):c.346-19_346-18del AND not specified

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

Germline classification:: Benign (1 submission)
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV001699147.2

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)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001919425	Clinical Genetics, Academic Medical Center - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Benign	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001919425

Clinical Genetics, Academic Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided

Benign

germline

clinical testing

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 Clinical Genetics, Academic Medical Center - VKGL Data-share Consensus, SCV001919425.1

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

#	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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