NM_000037.4(ANK1):c.2803C>T (p.Arg935Ter) AND not provided

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

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Jan 24, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV001869471.5

Allele description

NM_000037.4(ANK1):c.2803C>T (p.Arg935Ter)

Gene:

ANK1:ankyrin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8p11.21

Genomic location:

Preferred name:

NM_000037.4(ANK1):c.2803C>T (p.Arg935Ter)

Other names:

p.Arg935*

HGVS:

NC_000008.11:g.41696520G>A
NG_012820.2:g.205243C>T
NM_000037.4:c.2803C>TMANE SELECT
NM_001142446.2:c.2926C>T
NM_020475.3:c.2803C>T
NM_020476.3:c.2803C>T
NM_020477.3:c.2803C>T
NP_000028.3:p.Arg935Ter
NP_001135918.1:p.Arg976Ter
NP_065208.2:p.Arg935Ter
NP_065209.2:p.Arg935Ter
NP_065210.2:p.Arg935Ter
NC_000008.10:g.41554038G>A
NM_000037.3:c.2803C>T
NM_000037.4:c.2803C>T

Protein change:

R935*

Links:

dbSNP: rs2150597061

NCBI 1000 Genomes Browser:

rs2150597061

Molecular consequence:

NM_000037.4:c.2803C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001142446.2:c.2926C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_020475.3:c.2803C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_020476.3:c.2803C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_020477.3:c.2803C>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002247483	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Jan 24, 2024)	germline	clinical testing	PubMed (8) [See all records that cite these PMIDs] 8640229, 27427187, 29597199, 31122244, 32436265, 33074480, 33620149, 28492532
SCV004227601	Mayo Clinic Laboratories, Mayo Clinic	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Dec 23, 2022)	germline	clinical testing	PubMed (7) [See all records that cite these PMIDs] 28102861, 32436265, 32702754, 33074480, 33620149, 34953813, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002247483

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Jan 24, 2024)

germline

clinical testing

PubMed (8)
[See all records that cite these PMIDs]

SCV004227601

Mayo Clinic Laboratories, Mayo Clinic

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Dec 23, 2022)

germline

clinical testing

PubMed (7)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Ankyrin-1 mutations are a major cause of dominant and recessive hereditary spherocytosis.

Eber SW, Gonzalez JM, Lux ML, Scarpa AL, Tse WT, Dornwell M, Herbers J, Kugler W, Ozcan R, Pekrun A, Gallagher PG, Schröter W, Forget BG, Lux SE.

Nat Genet. 1996 Jun;13(2):214-8.

PubMed [citation]

PMID:: 8640229

Detection of new pathogenic mutations in patients with congenital haemolytic anaemia using next-generation sequencing.

Del Orbe Barreto R, Arrizabalaga B, De la Hoz AB, García-Orad Á, Tejada MI, Garcia-Ruiz JC, Fidalgo T, Bento C, Manco L, Ribeiro ML.

Int J Lab Hematol. 2016 Dec;38(6):629-638. doi: 10.1111/ijlh.12551. Epub 2016 Jul 17.

PubMed [citation]

PMID:: 27427187

See all PubMed Citations (12)

Details of each submission

From Invitae, SCV002247483.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (8)

Description

This sequence change creates a premature translational stop signal (p.Arg935*) in the ANK1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ANK1 are known to be pathogenic (PMID: 8640229). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with hereditary spherocytosis (PMID: 27427187, 29597199, 31122244, 32436265, 33074480, 33620149). This variant is also known as p.Arg976*. ClinVar contains an entry for this variant (Variation ID: 1330761). For these reasons, this variant has been classified as Pathogenic.

#	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

From Mayo Clinic Laboratories, Mayo Clinic, SCV004227601.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (7)

Description

PP5_very_strong, PM2, PM6, PS4_moderate, PVS1

#	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		1	not provided	not provided	not provided

Last Updated: Mar 16, 2024

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