12-52898830-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_002273.4(KRT8):c.1051G>A(p.Ala351Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000143 in 1,613,492 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_002273.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
KRT8 | NM_002273.4 | c.1051G>A | p.Ala351Thr | missense_variant | 6/8 | ENST00000692008.1 | |
KRT8 | NM_001256282.2 | c.1135G>A | p.Ala379Thr | missense_variant | 7/9 | ||
KRT8 | NM_001256293.2 | c.1051G>A | p.Ala351Thr | missense_variant | 7/9 | ||
KRT8 | NR_045962.2 | n.1502G>A | non_coding_transcript_exon_variant | 7/9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KRT8 | ENST00000692008.1 | c.1051G>A | p.Ala351Thr | missense_variant | 6/8 | NM_002273.4 | P2 |
Frequencies
GnomAD3 genomes ? AF: 0.00000657 AC: 1AN: 152242Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000159 AC: 4AN: 251192Hom.: 0 AF XY: 0.0000221 AC XY: 3AN XY: 135818
GnomAD4 exome AF: 0.0000151 AC: 22AN: 1461250Hom.: 0 Cov.: 32 AF XY: 0.0000193 AC XY: 14AN XY: 726874
GnomAD4 genome ? AF: 0.00000657 AC: 1AN: 152242Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74380
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 05, 2021 | The c.1051G>A (p.A351T) alteration is located in exon 6 (coding exon 6) of the KRT8 gene. This alteration results from a G to A substitution at nucleotide position 1051, causing the alanine (A) at amino acid position 351 to be replaced by a threonine (T). 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