rs1079276
Variant summary
Our verdict is Likely benign. The variant received -3 ACMG points: 0P and 3B. BP4_ModerateBP7
The NM_015175.3(NBEAL2):c.6054C>A(p.Pro2018Pro) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000694 in 1,613,382 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts 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. P2018P) has been classified as Benign.
Frequency
Consequence
NM_015175.3 synonymous
Scores
Clinical Significance
Conservation
Publications
- gray platelet syndromeInheritance: AR, AD Classification: DEFINITIVE, STRONG, SUPPORTIVE Submitted by: ClinGen, Orphanet, Labcorp Genetics (formerly Invitae)
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ACMG classification
Our verdict: Likely_benign. The variant received -3 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000461 AC: 7AN: 151904Hom.: 0 Cov.: 31 show subpopulations
GnomAD2 exomes AF: 0.0000482 AC: 12AN: 249084 AF XY: 0.0000444 show subpopulations
GnomAD4 exome AF: 0.0000718 AC: 105AN: 1461478Hom.: 0 Cov.: 79 AF XY: 0.0000646 AC XY: 47AN XY: 727022 show subpopulations
GnomAD4 genome AF: 0.0000461 AC: 7AN: 151904Hom.: 0 Cov.: 31 AF XY: 0.0000270 AC XY: 2AN XY: 74172 show subpopulations
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at