rs144415744
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_015908.6(SRRT):c.357C>A(p.Asp119Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00031 in 1,613,600 control chromosomes in the GnomAD database, including 4 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/18 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. D119D) has been classified as Likely benign.
Frequency
Consequence
NM_015908.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000381 AC: 58AN: 152204Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000742 AC: 182AN: 245344Hom.: 0 AF XY: 0.000681 AC XY: 91AN XY: 133680
GnomAD4 exome AF: 0.000301 AC: 440AN: 1461278Hom.: 4 Cov.: 32 AF XY: 0.000336 AC XY: 244AN XY: 726958
GnomAD4 genome AF: 0.000394 AC: 60AN: 152322Hom.: 0 Cov.: 32 AF XY: 0.000443 AC XY: 33AN XY: 74464
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at