NM_031963.3:c.35C>T
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP4BS2
The NM_031963.3(KRTAP9-8):c.35C>T(p.Thr12Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000461 in 1,606,696 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_031963.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000404 AC: 6AN: 148610Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000519 AC: 13AN: 250342Hom.: 0 AF XY: 0.0000517 AC XY: 7AN XY: 135386
GnomAD4 exome AF: 0.0000466 AC: 68AN: 1458086Hom.: 2 Cov.: 31 AF XY: 0.0000510 AC XY: 37AN XY: 725512
GnomAD4 genome AF: 0.0000404 AC: 6AN: 148610Hom.: 0 Cov.: 31 AF XY: 0.0000551 AC XY: 4AN XY: 72616
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.35C>T (p.T12M) alteration is located in exon 1 (coding exon 1) of the KRTAP9-8 gene. This alteration results from a C to T substitution at nucleotide position 35, causing the threonine (T) at amino acid position 12 to be replaced by a methionine (M). 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