21-44592125-G-C
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 0P and 1B. BP4
The NM_198688.3(KRTAP10-6):c.360C>G(p.Cys120Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000383 in 1,462,786 control chromosomes in the GnomAD database, including 3 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/18 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_198688.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
KRTAP10-6 | NM_198688.3 | c.360C>G | p.Cys120Trp | missense_variant | 1/1 | ENST00000400368.1 | |
TSPEAR | NM_144991.3 | c.83-24120C>G | intron_variant | ENST00000323084.9 | |||
TSPEAR | NM_001272037.2 | c.-122-24120C>G | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KRTAP10-6 | ENST00000400368.1 | c.360C>G | p.Cys120Trp | missense_variant | 1/1 | NM_198688.3 | P1 | ||
TSPEAR | ENST00000323084.9 | c.83-24120C>G | intron_variant | 1 | NM_144991.3 | P1 | |||
TSPEAR | ENST00000642437.1 | c.*28-24120C>G | intron_variant, NMD_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.0000333 AC: 4AN: 120162Hom.: 0 Cov.: 19
GnomAD3 exomes AF: 0.0000335 AC: 8AN: 238944Hom.: 0 AF XY: 0.0000386 AC XY: 5AN XY: 129552
GnomAD4 exome AF: 0.0000387 AC: 52AN: 1342624Hom.: 3 Cov.: 36 AF XY: 0.0000285 AC XY: 19AN XY: 667694
GnomAD4 genome ? AF: 0.0000333 AC: 4AN: 120162Hom.: 0 Cov.: 19 AF XY: 0.0000689 AC XY: 4AN XY: 58028
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 16, 2021 | The c.360C>G (p.C120W) alteration is located in exon 1 (coding exon 1) of the KRTAP10-6 gene. This alteration results from a C to G substitution at nucleotide position 360, causing the cysteine (C) at amino acid position 120 to be replaced by a tryptophan (W). 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