21-44539382-A-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_198691.3(KRTAP10-1):c.769T>A(p.Ser257Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000753 in 1,460,474 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_198691.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
KRTAP10-1 | NM_198691.3 | c.769T>A | p.Ser257Thr | missense_variant | 1/1 | ENST00000400375.1 | |
TSPEAR | NM_144991.3 | c.304-5459T>A | intron_variant | ENST00000323084.9 | |||
TSPEAR | NM_001272037.2 | c.100-5459T>A | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KRTAP10-1 | ENST00000400375.1 | c.769T>A | p.Ser257Thr | missense_variant | 1/1 | NM_198691.3 | P1 | ||
TSPEAR | ENST00000323084.9 | c.304-5459T>A | intron_variant | 1 | NM_144991.3 | P1 | |||
TSPEAR | ENST00000397916.1 | n.259-5459T>A | intron_variant, non_coding_transcript_variant | 1 | |||||
TSPEAR | ENST00000642437.1 | c.*249-5459T>A | intron_variant, NMD_transcript_variant |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.0000120 AC: 3AN: 249278Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 135060
GnomAD4 exome AF: 0.00000753 AC: 11AN: 1460474Hom.: 0 Cov.: 126 AF XY: 0.00000688 AC XY: 5AN XY: 726544
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Mar 07, 2023 | The c.769T>A (p.S257T) alteration is located in exon 1 (coding exon 1) of the KRTAP10-1 gene. This alteration results from a T to A substitution at nucleotide position 769, causing the serine (S) at amino acid position 257 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