chrX-48969703-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_004979.6(KCND1):āc.569A>Gā(p.Tyr190Cys) variant causes a missense change. The variant allele was found at a frequency of 0.00000274 in 1,095,430 control chromosomes in the GnomAD database, with no homozygous occurrence. There are no hemizygote samples in GnomAD. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_004979.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
KCND1 | NM_004979.6 | c.569A>G | p.Tyr190Cys | missense_variant | 1/6 | ENST00000218176.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KCND1 | ENST00000218176.4 | c.569A>G | p.Tyr190Cys | missense_variant | 1/6 | 1 | NM_004979.6 | P1 |
Frequencies
GnomAD3 genomes Cov.: 23
GnomAD4 exome AF: 0.00000274 AC: 3AN: 1095430Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 361432
GnomAD4 genome Cov.: 23
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 13, 2023 | The c.569A>G (p.Y190C) alteration is located in exon 1 (coding exon 1) of the KCND1 gene. This alteration results from a A to G substitution at nucleotide position 569, causing the tyrosine (Y) at amino acid position 190 to be replaced by a cysteine (C). 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
Publications
No publications associated with this variant yet.