17-41567438-CCCACTTCCTCCTCCAGAGCCACTTCCTCCTCCATAGTTGCCCCCACTTCCTCCACTATGACCACCTCCACTTCCTCCGCTATGGCCACCTCCACTTCCTCCACCATAGCCACCTCCACTACCTCCTCCAGAACCACTTCCTCCACCGTAGCTGCCTCCACTTCCTCCCCTGGACCCACTTCCTCCACCATAGCCACCT-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP6_Moderate
The NM_000226.4(KRT9):c.1509_1706del(p.Gly504_Gly569del) variant causes a inframe deletion change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000772 in 129,498 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Benign (★). Synonymous variant affecting the same amino acid position (i.e. G503G) has been classified as Likely benign.
Frequency
Consequence
NM_000226.4 inframe_deletion
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
KRT9 | NM_000226.4 | c.1509_1706del | p.Gly504_Gly569del | inframe_deletion | 7/8 | ENST00000246662.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KRT9 | ENST00000246662.9 | c.1509_1706del | p.Gly504_Gly569del | inframe_deletion | 7/8 | 1 | NM_000226.4 | P1 | |
KRT9 | ENST00000588431.1 | c.810_1007del | p.Gly271_Gly336del | inframe_deletion | 8/9 | 1 |
Frequencies
GnomAD3 genomes ? AF: 0.00000772 AC: 1AN: 129498Hom.: 0 Cov.: 31
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 7.15e-7 AC: 1AN: 1398472Hom.: 0 AF XY: 0.00000145 AC XY: 1AN XY: 691002
GnomAD4 genome ? AF: 0.00000772 AC: 1AN: 129498Hom.: 0 Cov.: 31 AF XY: 0.0000158 AC XY: 1AN XY: 63188
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Nov 26, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at