6-61894702-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_152688.4(KHDRBS2):c.743G>A(p.Arg248Gln) variant causes a missense change. The variant allele was found at a frequency of 0.0000171 in 1,461,204 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R248W) has been classified as Uncertain significance.
Frequency
Consequence
NM_152688.4 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 |
---|---|---|---|---|---|---|---|---|---|---|
KHDRBS2 | ENST00000281156.5 | c.743G>A | p.Arg248Gln | missense_variant | Exon 6 of 9 | 1 | NM_152688.4 | ENSP00000281156.3 | ||
KHDRBS2 | ENST00000675091.1 | n.743G>A | non_coding_transcript_exon_variant | Exon 6 of 10 | ENSP00000502245.1 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD3 exomes AF: 0.00000400 AC: 1AN: 250260Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135290
GnomAD4 exome AF: 0.0000171 AC: 25AN: 1461204Hom.: 0 Cov.: 31 AF XY: 0.0000234 AC XY: 17AN XY: 726864
GnomAD4 genome Cov.: 31
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.743G>A (p.R248Q) alteration is located in exon 6 (coding exon 6) of the KHDRBS2 gene. This alteration results from a G to A substitution at nucleotide position 743, causing the arginine (R) at amino acid position 248 to be replaced by a glutamine (Q). 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