NM_000476.3(AK1):c.139del (p.Val47fs) AND Hemolytic anemia due to adenylate kinase deficiency

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 1, 2004
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:: RCV000019931.29

Allele description [Variation Report for NM_000476.3(AK1):c.139del (p.Val47fs)]

NM_000476.3(AK1):c.139del (p.Val47fs)

Genes:

ST6GALNAC4-ST6GALNAC6-AK1:ST6GALNAC4-ST6GALNAC6-AK1 readthrough [Gene]
AK1:adenylate kinase 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

9q34.11

Genomic location:

Preferred name:

NM_000476.3(AK1):c.139del (p.Val47fs)

HGVS:

NC_000009.12:g.127872759del
NG_011792.2:g.9986del
NM_000476.3:c.139delMANE SELECT
NM_001318121.1:c.139del
NM_001318122.2:c.187del
NP_000467.1:p.Val47fs
NP_000467.1:p.Val47fs
NP_001305050.1:p.Val47fs
NP_001305051.1:p.Val63fs
LRG_1187t1:c.139del
LRG_1187:g.9986del
LRG_1187p1:p.Val47fs
NC_000009.11:g.130635038del
NG_011792.1:g.9986del
NM_000476.2:c.139del

Protein change:

V47fs

Links:

OMIM: 103000.0007; dbSNP: rs387906583

NCBI 1000 Genomes Browser:

rs387906583

Molecular consequence:

NM_000476.3:c.139del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001318121.1:c.139del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001318122.2:c.187del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Hemolytic anemia due to adenylate kinase deficiency (CNSHA3)
Synonyms:: ANEMIA, CONGENITAL, NONSPHEROCYTIC HEMOLYTIC, 3
Identifiers:: MONDO: MONDO:0012967; MedGen: C2675459; Orphanet: 86817; OMIM: 612631

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000040229	OMIM	no assertion criteria provided	Pathogenic (Sep 1, 2004)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000040229

OMIM

no assertion criteria provided

Pathogenic
(Sep 1, 2004)

germline

literature only

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	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

A new variant of adenylate kinase (delG138) associated with severe hemolytic anemia.

Fermo E, Bianchi P, Vercellati C, Micheli S, Marcello AP, Portaleone D, Zanella A.

Blood Cells Mol Dis. 2004 Sep-Oct;33(2):146-9.

PubMed [citation]

PMID:: 15315793

Details of each submission

From OMIM, SCV000040229.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a 3-year-old girl of southern Italian origin with a history of severe hemolytic anemia and low adenylate kinase activity (22% of normal) (CNSHA3; 612631), Fermo et al. (2004) identified homozygosity for a 1-bp deletion (138delG) in the AK1 gene, causing a frameshift and a premature stop at codon 91.

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

Last Updated: Oct 20, 2024

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