chr2-44743647-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_024766.5(CAMKMT):c.649G>T(p.Asp217Tyr) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000103 in 1,460,930 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. D217G) has been classified as Uncertain significance.
Frequency
Consequence
NM_024766.5 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 |
---|---|---|---|---|---|---|---|
CAMKMT | NM_024766.5 | c.649G>T | p.Asp217Tyr | missense_variant | 8/11 | ENST00000378494.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CAMKMT | ENST00000378494.8 | c.649G>T | p.Asp217Tyr | missense_variant | 8/11 | 1 | NM_024766.5 | P1 | |
CAMKMT | ENST00000477830.1 | n.543G>T | non_coding_transcript_exon_variant | 7/7 | 4 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome AF: 0.0000103 AC: 15AN: 1460930Hom.: 0 Cov.: 29 AF XY: 0.0000110 AC XY: 8AN XY: 726760
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 04, 2022 | The c.649G>T (p.D217Y) alteration is located in exon 8 (coding exon 8) of the CAMKMT gene. This alteration results from a G to T substitution at nucleotide position 649, causing the aspartic acid (D) at amino acid position 217 to be replaced by a tyrosine (Y). 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