chr21-44638112-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_181688.3(KRTAP10-10):c.695G>A(p.Arg232His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000285 in 1,613,098 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_181688.3 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 |
---|---|---|---|---|---|---|---|
KRTAP10-10 | NM_181688.3 | c.695G>A | p.Arg232His | missense_variant | 1/1 | ENST00000380095.2 | |
TSPEAR | NM_144991.3 | c.83-70107C>T | intron_variant | ENST00000323084.9 | |||
TSPEAR | NM_001272037.2 | c.-123+52433C>T | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KRTAP10-10 | ENST00000380095.2 | c.695G>A | p.Arg232His | missense_variant | 1/1 | NM_181688.3 | P1 | ||
TSPEAR | ENST00000323084.9 | c.83-70107C>T | intron_variant | 1 | NM_144991.3 | P1 | |||
TSPEAR | ENST00000642437.1 | c.*27+52433C>T | intron_variant, NMD_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.0000462 AC: 7AN: 151502Hom.: 0 Cov.: 28
GnomAD3 exomes AF: 0.0000239 AC: 6AN: 250538Hom.: 0 AF XY: 0.0000221 AC XY: 3AN XY: 135484
GnomAD4 exome AF: 0.0000267 AC: 39AN: 1461596Hom.: 0 Cov.: 85 AF XY: 0.0000261 AC XY: 19AN XY: 727094
GnomAD4 genome ? AF: 0.0000462 AC: 7AN: 151502Hom.: 0 Cov.: 28 AF XY: 0.0000271 AC XY: 2AN XY: 73928
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 10, 2022 | The c.695G>A (p.R232H) alteration is located in exon 1 (coding exon 1) of the KRTAP10-10 gene. This alteration results from a G to A substitution at nucleotide position 695, causing the arginine (R) at amino acid position 232 to be replaced by a histidine (H). 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