NM_000037.4(ANK1):c.*36+989dup AND Hereditary spherocytosis type 1

Germline classification:: Benign (1 submission)
Last evaluated:: May 28, 2019
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:: RCV000988050.1

Allele description [Variation Report for NM_000037.4(ANK1):c.*36+989dup]

NM_000037.4(ANK1):c.*36+989dup

Gene:

ANK1:ankyrin 1 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

8p11.21

Genomic location:

Preferred name:

NM_000037.4(ANK1):c.*36+989dup

HGVS:

NC_000008.11:g.41660441dup
NG_012820.1:g.241322_241323insCC
NG_012820.2:g.241323dup
NM_000037.4:c.*36+989dupMANE SELECT
NM_001142445.2:c.444+1360dup
NM_001142446.2:c.5667+1435dup
NM_020475.3:c.5544+1435dup
NM_020476.3:c.5619+1360dup
NM_020477.3:c.5133+1360dup
NM_020478.5:c.*36+989dup
NM_020480.5:c.303+3218dup
NC_000008.10:g.41517958_41517959insG
NC_000008.10:g.41517959_41517960insGG

Links:

dbSNP: rs59908561

NCBI 1000 Genomes Browser:

rs59908561

Molecular consequence:

NM_000037.4:c.*36+989dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001142445.2:c.444+1360dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001142446.2:c.5667+1435dup - intron variant - [Sequence Ontology: SO:0001627]
NM_020475.3:c.5544+1435dup - intron variant - [Sequence Ontology: SO:0001627]
NM_020476.3:c.5619+1360dup - intron variant - [Sequence Ontology: SO:0001627]
NM_020477.3:c.5133+1360dup - intron variant - [Sequence Ontology: SO:0001627]
NM_020478.5:c.*36+989dup - intron variant - [Sequence Ontology: SO:0001627]
NM_020480.5:c.303+3218dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Hereditary spherocytosis type 1
Synonyms:: Spherocytosis type 1; ANK1-Related Spherocytosis
Identifiers:: MONDO: MONDO:0008447; MedGen: C2674218; Orphanet: 822; OMIM: 182900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001137610	Mendelics	criteria provided, single submitter (Mendelics Assertion Criteria 2017)	Benign (May 28, 2019)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001137610

Mendelics

criteria provided, single submitter

(Mendelics Assertion Criteria 2017)

Benign
(May 28, 2019)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Mendelics, SCV001137610.1

#	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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