17-41528028-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_002276.5(KRT19):c.220G>T(p.Gly74Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000117 in 1,612,502 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. G74V) has been classified as Uncertain significance.
Frequency
Consequence
NM_002276.5 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 |
---|---|---|---|---|---|---|---|
KRT19 | NM_002276.5 | c.220G>T | p.Gly74Trp | missense_variant | 1/6 | ENST00000361566.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KRT19 | ENST00000361566.7 | c.220G>T | p.Gly74Trp | missense_variant | 1/6 | 1 | NM_002276.5 | P1 | |
KRT19 | ENST00000455635.1 | c.220G>T | p.Gly74Trp | missense_variant | 1/4 | 3 |
Frequencies
GnomAD3 genomes AF: 0.0000657 AC: 10AN: 152244Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.0000647 AC: 16AN: 247282Hom.: 0 AF XY: 0.0000595 AC XY: 8AN XY: 134396
GnomAD4 exome AF: 0.000122 AC: 178AN: 1460258Hom.: 0 Cov.: 31 AF XY: 0.000116 AC XY: 84AN XY: 726460
GnomAD4 genome AF: 0.0000657 AC: 10AN: 152244Hom.: 0 Cov.: 34 AF XY: 0.0000672 AC XY: 5AN XY: 74378
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Feb 21, 2024 | The c.220G>T (p.G74W) alteration is located in exon 1 (coding exon 1) of the KRT19 gene. This alteration results from a G to T substitution at nucleotide position 220, causing the glycine (G) at amino acid position 74 to be replaced by a tryptophan (W). 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