21-44600709-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_198689.3(KRTAP10-7):c.88G>A(p.Asp30Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000133 in 1,613,152 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 11/17 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_198689.3 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
KRTAP10-7 | NM_198689.3 | c.88G>A | p.Asp30Asn | missense_variant | 1/1 | ENST00000609664.2 | NP_941962.1 | |
TSPEAR | NM_144991.3 | c.83-32704C>T | intron_variant | ENST00000323084.9 | NP_659428.2 | |||
TSPEAR | NM_001272037.2 | c.-122-32704C>T | intron_variant | NP_001258966.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
KRTAP10-7 | ENST00000609664.2 | c.88G>A | p.Asp30Asn | missense_variant | 1/1 | 6 | NM_198689.3 | ENSP00000476821.1 | ||
TSPEAR | ENST00000323084.9 | c.83-32704C>T | intron_variant | 1 | NM_144991.3 | ENSP00000321987.4 | ||||
TSPEAR | ENST00000642437.1 | n.*28-32704C>T | intron_variant | ENSP00000496535.1 |
Frequencies
GnomAD3 genomes AF: 0.0000660 AC: 10AN: 151444Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000815 AC: 20AN: 245312Hom.: 0 AF XY: 0.0000752 AC XY: 10AN XY: 132976
GnomAD4 exome AF: 0.000140 AC: 205AN: 1461708Hom.: 0 Cov.: 32 AF XY: 0.000136 AC XY: 99AN XY: 727144
GnomAD4 genome AF: 0.0000660 AC: 10AN: 151444Hom.: 0 Cov.: 32 AF XY: 0.0000676 AC XY: 5AN XY: 73976
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Feb 15, 2023 | The c.88G>A (p.D30N) alteration is located in exon 1 (coding exon 1) of the KRTAP10-7 gene. This alteration results from a G to A substitution at nucleotide position 88, causing the aspartic acid (D) at amino acid position 30 to be replaced by an asparagine (N). 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