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NM_006563.5(KLF1):c.519_525dup (p.Gly176fs) AND FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 6

Germline classification:
Affects (1 submission)
Last evaluated:
Oct 4, 2024
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:
RCV004777573.1

Allele description [Variation Report for NM_006563.5(KLF1):c.519_525dup (p.Gly176fs)]

NM_006563.5(KLF1):c.519_525dup (p.Gly176fs)

Genes:
LOC130063673:ATAC-STARR-seq lymphoblastoid silent region 10180 [Gene]
KLF1:KLF transcription factor 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
19p13.13
Genomic location:
Preferred name:
NM_006563.5(KLF1):c.519_525dup (p.Gly176fs)
HGVS:
  • NC_000019.10:g.12885708_12885714dup
  • NG_013087.1:g.6493_6499dup
  • NG_198090.1:g.185_191dup
  • NM_006563.5:c.519_525dupMANE SELECT
  • NP_006554.1:p.Gly176Argfs
  • NP_006554.1:p.Gly176fs
  • LRG_825t1:c.516_522dup
  • LRG_825:g.6493_6499dup
  • LRG_825p1:p.Gly176Argfs
  • NC_000019.9:g.12996518_12996519insGGCGCCG
  • NC_000019.9:g.12996522_12996528dup
  • NM_006563.3:c.519_525dupCGGCGCC
  • NM_006563.4:c.516_522dup
  • NM_006563.5:c.525_526insCGGCGCCMANE SELECT
Protein change:
G176fs
Links:
OMIM: 600599.0011; dbSNP: rs483352838
NCBI 1000 Genomes Browser:
rs483352838
Molecular consequence:
  • NM_006563.5:c.519_525dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 6 (HBFQTL6)
Synonyms:
HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN, KLF1-RELATED
Identifiers:
MedGen: C3150805; Orphanet: 251380; OMIM: 613566

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005367947OMIM
no assertion criteria provided
Affects
(Oct 4, 2024) 		germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Mutations in Kruppel-like factor 1 cause transfusion-dependent hemolytic anemia and persistence of embryonic globin gene expression.

Viprakasit V, Ekwattanakit S, Riolueang S, Chalaow N, Fisher C, Lower K, Kanno H, Tachavanich K, Bejrachandra S, Saipin J, Juntharaniyom M, Sanpakit K, Tanphaichitr VS, Songdej D, Babbs C, Gibbons RJ, Philipsen S, Higgs DR.

Blood. 2014 Mar 6;123(10):1586-95. doi: 10.1182/blood-2013-09-526087. Epub 2014 Jan 17.

PubMed [citation]
PMID:
24443441

An Unusual Hydrops Fetalis Associated with Compound Heterozygosity for Krüppel-like Factor 1 mutations.

Lee HH, Mak AS, Kou KO, Poon CF, Wong WS, Chiu KH, Au PK, Chan KY, Kan AS, Tang MH, Leung KY.

Hemoglobin. 2016 Nov;40(6):431-434. doi: 10.1080/03630269.2016.1267017.

PubMed [citation]
PMID:
28361594

Details of each submission

From OMIM, SCV005367947.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

For discussion of the 7-bp insertion (c.525_526insCGGCGCC) in the KLF1 gene, resulting in a frameshift and premature termination (Gly176ArgfsTer179), that was found in compound heterozygous state in 4 unrelated patients with congenital dyserythropoietic anemia type IVb (CDAN4B; 620969) by Viprakasit et al. (2014), see 600599.0010. Viprakasit et al. (2014) identified another CDAN4B patient (P2) who was compound heterozygous for the 7-bp insertion and a missense mutation in the KLF1 gene (R301H; 600599.0013). The parent from whom P2 inherited the 7-bp insertion had increased HbF (HBFQTL6; 613566).

In a Chinese infant with CDAN4B presenting as hydrops fetalis, Lee et al. (2016) identified compound heterozygosity for the 7-bp insertion and a missense mutation (P338T; 600599.0016) in the KLF1 gene.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2024