chr1-233666969-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_002245.4(KCNK1):c.730C>T(p.Leu244Phe) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000434 in 1,611,994 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_002245.4 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
KCNK1 | NM_002245.4 | c.730C>T | p.Leu244Phe | missense_variant | Exon 2 of 3 | ENST00000366621.8 | NP_002236.1 | |
KCNK1 | XM_011544184.3 | c.526C>T | p.Leu176Phe | missense_variant | Exon 4 of 5 | XP_011542486.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152196Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000121 AC: 3AN: 248266Hom.: 0 AF XY: 0.00000745 AC XY: 1AN XY: 134214
GnomAD4 exome AF: 0.00000206 AC: 3AN: 1459798Hom.: 0 Cov.: 31 AF XY: 0.00000275 AC XY: 2AN XY: 726240
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152196Hom.: 0 Cov.: 32 AF XY: 0.0000403 AC XY: 3AN XY: 74350
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.730C>T (p.L244F) alteration is located in exon 2 (coding exon 2) of the KCNK1 gene. This alteration results from a C to T substitution at nucleotide position 730, causing the leucine (L) at amino acid position 244 to be replaced by a phenylalanine (F). 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