rs113182184
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2
The NM_001130173.2(MYB):c.1892G>A(p.Gly631Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000307 in 1,614,076 control chromosomes in the GnomAD database, including 3 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_001130173.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MYB | NM_001130173.2 | c.1892G>A | p.Gly631Glu | missense_variant | 13/16 | ENST00000341911.10 | |
LOC105378011 | XR_001744368.2 | n.279-4357C>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MYB | ENST00000341911.10 | c.1892G>A | p.Gly631Glu | missense_variant | 13/16 | 1 | NM_001130173.2 | A1 |
Frequencies
GnomAD3 genomes AF: 0.00156 AC: 238AN: 152114Hom.: 1 Cov.: 33
GnomAD3 exomes AF: 0.000287 AC: 72AN: 250894Hom.: 0 AF XY: 0.000162 AC XY: 22AN XY: 135590
GnomAD4 exome AF: 0.000178 AC: 260AN: 1461844Hom.: 2 Cov.: 31 AF XY: 0.000149 AC XY: 108AN XY: 727218
GnomAD4 genome AF: 0.00155 AC: 236AN: 152232Hom.: 1 Cov.: 33 AF XY: 0.00155 AC XY: 115AN XY: 74416
ClinVar
Submissions by phenotype
MYB-related disorder Benign:1
Likely benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Aug 02, 2022 | This variant is classified as likely 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