NM_032138.7:c.1597G>T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_032138.7(KBTBD7):c.1597G>T(p.Val533Phe) variant causes a missense change. The variant allele was found at a frequency of 0.0000031 in 1,614,038 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_032138.7 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
KBTBD7 | ENST00000379483.4 | c.1597G>T | p.Val533Phe | missense_variant | Exon 1 of 1 | 6 | NM_032138.7 | ENSP00000368797.3 | ||
ENSG00000278390 | ENST00000615685.4 | n.341C>A | non_coding_transcript_exon_variant | Exon 4 of 4 | 4 | |||||
ENSG00000278390 | ENST00000619407.4 | n.339+30258C>A | intron_variant | Intron 3 of 3 | 2 | |||||
ENSG00000278390 | ENST00000661006.1 | n.245+30258C>A | intron_variant | Intron 2 of 2 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152176Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.00000274 AC: 4AN: 1461862Hom.: 0 Cov.: 31 AF XY: 0.00000275 AC XY: 2AN XY: 727234
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152176Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74340
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1597G>T (p.V533F) alteration is located in exon 1 (coding exon 1) of the KBTBD7 gene. This alteration results from a G to T substitution at nucleotide position 1597, causing the valine (V) at amino acid position 533 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at