chr21-30496888-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_181610.3(KRTAP19-4):āc.223A>Gā(p.Ile75Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000621 in 1,610,798 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/22 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_181610.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
KRTAP19-4 | NM_181610.3 | c.223A>G | p.Ile75Val | missense_variant | 1/1 | ENST00000334058.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KRTAP19-4 | ENST00000334058.3 | c.223A>G | p.Ile75Val | missense_variant | 1/1 | NM_181610.3 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000537 AC: 8AN: 148956Hom.: 0 Cov.: 27
GnomAD3 exomes AF: 0.0000477 AC: 12AN: 251440Hom.: 0 AF XY: 0.0000221 AC XY: 3AN XY: 135894
GnomAD4 exome AF: 0.0000629 AC: 92AN: 1461842Hom.: 0 Cov.: 30 AF XY: 0.0000715 AC XY: 52AN XY: 727224
GnomAD4 genome AF: 0.0000537 AC: 8AN: 148956Hom.: 0 Cov.: 27 AF XY: 0.0000276 AC XY: 2AN XY: 72398
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 10, 2022 | The c.223A>G (p.I75V) alteration is located in exon 1 (coding exon 1) of the KRTAP19-4 gene. This alteration results from a A to G substitution at nucleotide position 223, causing the isoleucine (I) at amino acid position 75 to be replaced by a valine (V). 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