12-52286378-G-A
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6BP7BS2
The NM_002281.4(KRT81):c.1395C>T(p.Thr465Thr) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000141 in 1,555,340 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 Likely benign (no stars).
Frequency
Consequence
NM_002281.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
KRT81 | NM_002281.4 | c.1395C>T | p.Thr465Thr | synonymous_variant | Exon 9 of 9 | ENST00000327741.9 | NP_002272.2 | |
KRT86 | NM_001320198.2 | c.-5+10432G>A | intron_variant | Intron 2 of 10 | ENST00000423955.7 | NP_001307127.1 | ||
KRT86 | XM_005268866.5 | c.129+10432G>A | 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.1395C>T | p.Thr465Thr | synonymous_variant | Exon 9 of 9 | 1 | NM_002281.4 | ENSP00000369349.4 | ||
KRT86 | ENST00000423955.7 | c.-5+10432G>A | intron_variant | Intron 2 of 10 | 2 | NM_001320198.2 | ENSP00000444533.1 | |||
KRT86 | ENST00000553310.6 | c.-4-15535G>A | intron_variant | Intron 1 of 2 | 4 | ENSP00000452237.3 |
Frequencies
GnomAD3 genomes AF: 0.000834 AC: 127AN: 152192Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000209 AC: 33AN: 158034Hom.: 0 AF XY: 0.000120 AC XY: 10AN XY: 83584
GnomAD4 exome AF: 0.0000641 AC: 90AN: 1403030Hom.: 0 Cov.: 33 AF XY: 0.0000592 AC XY: 41AN XY: 692378
GnomAD4 genome AF: 0.000854 AC: 130AN: 152310Hom.: 0 Cov.: 33 AF XY: 0.000846 AC XY: 63AN XY: 74474
ClinVar
Submissions by phenotype
KRT81-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at