chr6-39900150-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001201427.2(DAAM2):c.2753C>T(p.Thr918Met) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000028 in 1,604,932 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001201427.2 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
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152130Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000687 AC: 16AN: 232844Hom.: 0 AF XY: 0.0000715 AC XY: 9AN XY: 125954
GnomAD4 exome AF: 0.0000296 AC: 43AN: 1452802Hom.: 0 Cov.: 30 AF XY: 0.0000333 AC XY: 24AN XY: 721682
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152130Hom.: 0 Cov.: 33 AF XY: 0.0000135 AC XY: 1AN XY: 74318
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
The c.2753C>T (p.T918M) alteration is located in exon 23 (coding exon 22) of the DAAM2 gene. This alteration results from a C to T substitution at nucleotide position 2753, causing the threonine (T) at amino acid position 918 to be replaced by a methionine (M). 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