rs17079425
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_015175.3(NBEAL2):c.1340G>A(p.Arg447His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0289 in 1,558,994 control chromosomes in the GnomAD database, including 1,955 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R447C) has been classified as Likely benign.
Frequency
Consequence
NM_015175.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NBEAL2 | NM_015175.3 | c.1340G>A | p.Arg447His | missense_variant | 13/54 | ENST00000450053.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NBEAL2 | ENST00000450053.8 | c.1340G>A | p.Arg447His | missense_variant | 13/54 | 2 | NM_015175.3 | P2 | |
NBEAL2 | ENST00000651747.1 | c.1238G>A | p.Arg413His | missense_variant | 12/53 | A2 |
Frequencies
GnomAD3 genomes ? AF: 0.0378 AC: 5756AN: 152194Hom.: 254 Cov.: 33
GnomAD3 exomes AF: 0.0643 AC: 11686AN: 181794Hom.: 946 AF XY: 0.0566 AC XY: 5578AN XY: 98496
GnomAD4 exome AF: 0.0280 AC: 39332AN: 1406682Hom.: 1700 Cov.: 32 AF XY: 0.0278 AC XY: 19256AN XY: 693098
GnomAD4 genome ? AF: 0.0379 AC: 5775AN: 152312Hom.: 255 Cov.: 33 AF XY: 0.0402 AC XY: 2992AN XY: 74494
ClinVar
Submissions by phenotype
not specified Benign:1
Benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | - | - - |
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | GeneDx | Jun 09, 2021 | - - |
Gray platelet syndrome Benign:1
Benign, criteria provided, single submitter | clinical testing | Illumina Laboratory Services, Illumina | Jan 13, 2018 | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at