NM_006563.5:c.954dupG
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 4P and 1B. PVS1_StrongBS2_Supporting
The NM_006563.5(KLF1):c.954dupG(p.Arg319GlufsTer34) variant causes a frameshift change. The variant allele was found at a frequency of 0.000106 in 1,608,696 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity,Affects (no stars).
Frequency
Consequence
NM_006563.5 frameshift
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000592 AC: 9AN: 152012Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000244 AC: 6AN: 245656Hom.: 0 AF XY: 0.0000299 AC XY: 4AN XY: 133574
GnomAD4 exome AF: 0.000111 AC: 161AN: 1456684Hom.: 0 Cov.: 31 AF XY: 0.000112 AC XY: 81AN XY: 724920
GnomAD4 genome AF: 0.0000592 AC: 9AN: 152012Hom.: 0 Cov.: 32 AF XY: 0.0000539 AC XY: 4AN XY: 74242
ClinVar
Submissions by phenotype
Anemia, congenital dyserythropoietic, type IVb Pathogenic:1
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BLOOD GROUP--LUTHERAN INHIBITOR Pathogenic:1
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KLF1-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 6 Other:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at