12-52609274-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_175068.3(KRT73):c.1339G>A(p.Gly447Arg) variant causes a missense change. The variant allele was found at a frequency of 0.0000471 in 1,613,486 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_175068.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
KRT73 | ENST00000305748.7 | c.1339G>A | p.Gly447Arg | missense_variant | Exon 8 of 9 | 1 | NM_175068.3 | ENSP00000307014.3 | ||
KRT73 | ENST00000552855.1 | c.574G>A | p.Gly192Arg | missense_variant | Exon 5 of 6 | 3 | ENSP00000449081.1 | |||
KRT73 | ENST00000546934.1 | n.1732G>A | non_coding_transcript_exon_variant | Exon 7 of 8 | 2 | |||||
KRT73-AS1 | ENST00000551089.5 | n.102-2014C>T | intron_variant | Intron 1 of 3 | 4 |
Frequencies
GnomAD3 genomes AF: 0.0000986 AC: 15AN: 152146Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000636 AC: 16AN: 251466Hom.: 0 AF XY: 0.0000736 AC XY: 10AN XY: 135908
GnomAD4 exome AF: 0.0000417 AC: 61AN: 1461222Hom.: 1 Cov.: 30 AF XY: 0.0000399 AC XY: 29AN XY: 726978
GnomAD4 genome AF: 0.0000985 AC: 15AN: 152264Hom.: 0 Cov.: 32 AF XY: 0.000107 AC XY: 8AN XY: 74432
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1339G>A (p.G447R) alteration is located in exon 8 (coding exon 8) of the KRT73 gene. This alteration results from a G to A substitution at nucleotide position 1339, causing the glycine (G) at amino acid position 447 to be replaced by an arginine (R). 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