rs148980872
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_182507.3(KRT80):āc.811G>Cā(p.Glu271Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000992 in 1,612,624 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. E271K) has been classified as Uncertain significance.
Frequency
Consequence
NM_182507.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
KRT80 | NM_182507.3 | c.811G>C | p.Glu271Gln | missense_variant | Exon 5 of 9 | ENST00000394815.3 | NP_872313.2 | |
KRT80 | NM_001081492.2 | c.811G>C | p.Glu271Gln | missense_variant | Exon 5 of 9 | NP_001074961.1 | ||
KRT80 | XM_005268676.4 | c.916G>C | p.Glu306Gln | missense_variant | Exon 3 of 7 | XP_005268733.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
KRT80 | ENST00000394815.3 | c.811G>C | p.Glu271Gln | missense_variant | Exon 5 of 9 | 1 | NM_182507.3 | ENSP00000378292.2 | ||
KRT80 | ENST00000313234.9 | c.811G>C | p.Glu271Gln | missense_variant | Exon 5 of 9 | 1 | ENSP00000369361.2 | |||
KRT80 | ENST00000466011.1 | n.967G>C | non_coding_transcript_exon_variant | Exon 3 of 7 | 2 | |||||
LINC00592 | ENST00000640420.1 | n.413+8669C>G | intron_variant | Intron 2 of 2 | 5 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152144Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000160 AC: 4AN: 249580Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 135098
GnomAD4 exome AF: 0.0000103 AC: 15AN: 1460480Hom.: 0 Cov.: 32 AF XY: 0.00000688 AC XY: 5AN XY: 726646
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152144Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74332
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at