11-6269818-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_176875.4(CCKBR):c.301C>T(p.Leu101Phe) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000558 in 1,614,030 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_176875.4 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 |
---|---|---|---|---|---|---|---|---|
CCKBR | NM_176875.4 | c.301C>T | p.Leu101Phe | missense_variant | Exon 2 of 5 | ENST00000334619.7 | NP_795344.1 | |
CCKBR | NM_001363552.2 | c.301C>T | p.Leu101Phe | missense_variant | Exon 2 of 4 | NP_001350481.1 | ||
CCKBR | NM_001318029.2 | c.152-270C>T | intron_variant | Intron 1 of 3 | NP_001304958.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152162Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000119 AC: 3AN: 251464Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135914
GnomAD4 exome AF: 0.00000479 AC: 7AN: 1461868Hom.: 0 Cov.: 33 AF XY: 0.00000688 AC XY: 5AN XY: 727236
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152162Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74336
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.301C>T (p.L101F) alteration is located in exon 2 (coding exon 2) of the CCKBR gene. This alteration results from a C to T substitution at nucleotide position 301, causing the leucine (L) at amino acid position 101 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