NM_006563.5(KLF1):c.954G>C (p.Trp318Cys) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 4, 2025
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:: RCV003493553.2

Allele description [Variation Report for NM_006563.5(KLF1):c.954G>C (p.Trp318Cys)]

NM_006563.5(KLF1):c.954G>C (p.Trp318Cys)

Genes:

LOC117125591:CRISPRi-FlowFISH-validated PRDX2 and RAD23A regulatory element [Gene]
KLF1:KLF transcription factor 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.13

Genomic location:

Preferred name:

NM_006563.5(KLF1):c.954G>C (p.Trp318Cys)

HGVS:

NC_000019.10:g.12885020C>G
NG_013087.1:g.7184G>C
NG_068129.1:g.110C>G
NM_006563.5:c.954G>CMANE SELECT
NP_006554.1:p.Trp318Cys
LRG_825:g.7184G>C
NC_000019.9:g.12995834C>G
NM_006563.3:c.954G>C

Protein change:

W318C

Links:

dbSNP: rs769526751

NCBI 1000 Genomes Browser:

rs769526751

Molecular consequence:

NM_006563.5:c.954G>C - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

loss_of_function_variant [Sequence Ontology: SO:0002054]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004242964	Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Mar 4, 2025)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 30222867, 34535703, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004242964

Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Mar 4, 2025)

germline

clinical testing

PubMed (3)
[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	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Investigation of the variable In(Lu) phenotype caused by KLF1 variants.

Fraser NS, Knauth CM, Schoeman EM, Moussa A, Perkins AC, Walsh T, Millard GM, Dean MM, Hyland CA, Flower RL.

Transfusion. 2018 Oct;58(10):2414-2420. doi: 10.1111/trf.14926. Epub 2018 Sep 17.

PubMed [citation]

PMID:: 30222867

Novel variants in Krueppel like factor 1 that cause persistence of fetal hemoglobin in In(Lu) individuals.

Eernstman J, Veldhuisen B, Ligthart P, von Lindern M, van der Schoot CE, van den Akker E.

Sci Rep. 2021 Sep 17;11(1):18557. doi: 10.1038/s41598-021-97149-y.

PubMed [citation]

PMID:: 34535703
PMCID:: PMC8448862

See all PubMed Citations (3)

Details of each submission

From Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, SCV004242964.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

#	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, 2025

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