chr12-52286475-C-G
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_002281.4(KRT81):āc.1298G>Cā(p.Gly433Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000399 in 1,552,336 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_002281.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
KRT81 | NM_002281.4 | c.1298G>C | p.Gly433Ala | missense_variant | Exon 9 of 9 | ENST00000327741.9 | NP_002272.2 | |
KRT86 | NM_001320198.2 | c.-5+10529C>G | intron_variant | Intron 2 of 10 | ENST00000423955.7 | NP_001307127.1 | ||
KRT86 | XM_005268866.5 | c.129+10529C>G | intron_variant | Intron 2 of 10 | XP_005268923.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
KRT81 | ENST00000327741.9 | c.1298G>C | p.Gly433Ala | missense_variant | Exon 9 of 9 | 1 | NM_002281.4 | ENSP00000369349.4 | ||
KRT86 | ENST00000423955.7 | c.-5+10529C>G | intron_variant | Intron 2 of 10 | 2 | NM_001320198.2 | ENSP00000444533.1 | |||
KRT86 | ENST00000553310.6 | c.-4-15438C>G | intron_variant | Intron 1 of 2 | 4 | ENSP00000452237.3 |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152204Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000196 AC: 3AN: 153028Hom.: 0 AF XY: 0.0000123 AC XY: 1AN XY: 81514
GnomAD4 exome AF: 0.0000414 AC: 58AN: 1400132Hom.: 0 Cov.: 33 AF XY: 0.0000449 AC XY: 31AN XY: 690758
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152204Hom.: 0 Cov.: 33 AF XY: 0.0000538 AC XY: 4AN XY: 74356
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1298G>C (p.G433A) alteration is located in exon 9 (coding exon 9) of the KRT81 gene. This alteration results from a G to C substitution at nucleotide position 1298, causing the glycine (G) at amino acid position 433 to be replaced by an alanine (A). 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