17-41084529-C-A
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BP4_Strong
The NM_033061.4(KRTAP4-7):c.323C>A(p.Thr108Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. 13/18 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_033061.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
KRTAP4-7 | NM_033061.4 | c.323C>A | p.Thr108Asn | missense_variant | Exon 1 of 1 | ENST00000391417.6 | NP_149050.3 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000196 AC: 12AN: 61260Hom.: 0 Cov.: 4
GnomAD3 exomes AF: 0.00141 AC: 275AN: 194544Hom.: 0 AF XY: 0.00118 AC XY: 126AN XY: 106398
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000653 AC: 76AN: 1164726Hom.: 0 Cov.: 97 AF XY: 0.0000448 AC XY: 26AN XY: 580054
GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.000196 AC: 12AN: 61344Hom.: 0 Cov.: 4 AF XY: 0.000266 AC XY: 8AN XY: 30078
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.323C>A (p.T108N) alteration is located in exon 1 (coding exon 1) of the KRTAP4-7 gene. This alteration results from a C to A substitution at nucleotide position 323, causing the threonine (T) at amino acid position 108 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