chr6-39867814-G-C
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBS1BS2
The NM_001201427.2(DAAM2):c.733G>C(p.Val245Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00112 in 1,607,924 control chromosomes in the GnomAD database, including 15 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_001201427.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DAAM2 | NM_001201427.2 | c.733G>C | p.Val245Leu | missense_variant | 6/25 | ENST00000274867.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DAAM2 | ENST00000274867.9 | c.733G>C | p.Val245Leu | missense_variant | 6/25 | 1 | NM_001201427.2 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00594 AC: 905AN: 152250Hom.: 6 Cov.: 33
GnomAD3 exomes AF: 0.00171 AC: 399AN: 233810Hom.: 2 AF XY: 0.00127 AC XY: 162AN XY: 127230
GnomAD4 exome AF: 0.000618 AC: 899AN: 1455556Hom.: 9 Cov.: 30 AF XY: 0.000560 AC XY: 405AN XY: 723556
GnomAD4 genome ? AF: 0.00596 AC: 908AN: 152368Hom.: 6 Cov.: 33 AF XY: 0.00569 AC XY: 424AN XY: 74516
ClinVar
Submissions by phenotype
DAAM2-related disorder Benign:1
Benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Feb 18, 2019 | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at