rs121909130
Variant summary
Our verdict is Likely pathogenic. Variant got 9 ACMG points: 9P and 0B. PM2PM5PP3_StrongPP5
The NM_001320198.2(KRT86):c.1239G>T(p.Glu413Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Pathogenic (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. E413K) has been classified as Pathogenic.
Frequency
Consequence
NM_001320198.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 9 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
KRT86 | NM_001320198.2 | c.1239G>T | p.Glu413Asp | missense_variant | 9/11 | ENST00000423955.7 | |
KRT86 | XM_005268866.5 | c.1470G>T | p.Glu490Asp | missense_variant | 9/11 | ||
KRT81 | XM_047428838.1 | c.-14517C>A | 5_prime_UTR_variant | 1/10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KRT86 | ENST00000423955.7 | c.1239G>T | p.Glu413Asp | missense_variant | 9/11 | 2 | NM_001320198.2 | P1 | |
KRT86 | ENST00000293525.5 | c.1239G>T | p.Glu413Asp | missense_variant | 7/9 | 1 | P1 | ||
ENST00000664686.1 | n.16C>A | non_coding_transcript_exon_variant | 1/3 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD4 exome Cov.: 35
GnomAD4 genome ? Cov.: 33
ClinVar
Submissions by phenotype
Beaded hair Pathogenic:1
Pathogenic, no assertion criteria provided | literature only | OMIM | Jul 01, 1998 | - - |
not provided Other:1
not provided, no classification provided | literature only | Epithelial Biology; Institute of Medical Biology, Singapore | - | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at