2-95382449-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_013434.5(KCNIP3):c.628G>C(p.Ala210Pro) variant causes a missense change. The variant allele was found at a frequency of 0.000000686 in 1,456,760 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. A210V) has been classified as Uncertain significance.
Frequency
Consequence
NM_013434.5 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 |
---|---|---|---|---|---|---|---|
KCNIP3 | NM_013434.5 | c.628G>C | p.Ala210Pro | missense_variant | 7/9 | ENST00000295225.10 | |
KCNIP3 | NM_001034914.2 | c.550G>C | p.Ala184Pro | missense_variant | 6/8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KCNIP3 | ENST00000295225.10 | c.628G>C | p.Ala210Pro | missense_variant | 7/9 | 1 | NM_013434.5 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD3 exomes AF: 0.00000406 AC: 1AN: 246056Hom.: 0 AF XY: 0.00000748 AC XY: 1AN XY: 133602
GnomAD4 exome AF: 6.86e-7 AC: 1AN: 1456760Hom.: 0 Cov.: 30 AF XY: 0.00000138 AC XY: 1AN XY: 724766
GnomAD4 genome ? Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 03, 2023 | The c.628G>C (p.A210P) alteration is located in exon 7 (coding exon 7) of the KCNIP3 gene. This alteration results from a G to C substitution at nucleotide position 628, causing the alanine (A) at amino acid position 210 to be replaced by a proline (P). 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