NM_000037.4(ANK1):c.2768del (p.Gly923fs) AND Hereditary spherocytosis type 1

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jun 25, 2021
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:: RCV001785931.4

Allele description [Variation Report for NM_000037.4(ANK1):c.2768del (p.Gly923fs)]

NM_000037.4(ANK1):c.2768del (p.Gly923fs)

Gene:

ANK1:ankyrin 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

8p11.21

Genomic location:

Preferred name:

NM_000037.4(ANK1):c.2768del (p.Gly923fs)

HGVS:

NC_000008.11:g.41696558del
NG_012820.2:g.205208del
NM_000037.4:c.2768delMANE SELECT
NM_001142446.2:c.2891del
NM_020475.3:c.2768del
NM_020476.3:c.2768del
NM_020477.3:c.2768del
NP_000028.3:p.Gly923fs
NP_001135918.1:p.Gly964fs
NP_065208.2:p.Gly923fs
NP_065209.2:p.Gly923fs
NP_065210.2:p.Gly923fs
NC_000008.10:g.41554076del

Protein change:

G923fs

Links:

dbSNP: rs2150597126

NCBI 1000 Genomes Browser:

rs2150597126

Molecular consequence:

NM_000037.4:c.2768del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001142446.2:c.2891del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_020475.3:c.2768del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_020476.3:c.2768del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_020477.3:c.2768del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV002021382	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jun 25, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002021382

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jun 25, 2021)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

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

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Revvity Omics, Revvity, SCV002021382.3

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

#	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: Mar 16, 2024

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