14-24065005-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_138360.4(CARMIL3):c.3128C>T(p.Pro1043Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000411 in 1,459,878 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_138360.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CARMIL3 | ENST00000342740.6 | c.3128C>T | p.Pro1043Leu | missense_variant | Exon 33 of 40 | 5 | NM_138360.4 | ENSP00000340467.5 | ||
CARMIL3 | ENST00000560349.1 | n.1482C>T | non_coding_transcript_exon_variant | Exon 5 of 11 | 1 | |||||
CARMIL3 | ENST00000559694.5 | n.2658C>T | non_coding_transcript_exon_variant | Exon 18 of 24 | 5 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome AF: 0.00000411 AC: 6AN: 1459878Hom.: 0 Cov.: 32 AF XY: 0.00000413 AC XY: 3AN XY: 726266
GnomAD4 genome Cov.: 31
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.3128C>T (p.P1043L) alteration is located in exon 33 (coding exon 33) of the CARMIL3 gene. This alteration results from a C to T substitution at nucleotide position 3128, causing the proline (P) at amino acid position 1043 to be replaced by a leucine (L). 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