rs3809849
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_014520.4(MYBBP1A):āc.22C>Gā(p.Gln8Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.222 in 1,603,622 control chromosomes in the GnomAD database, including 40,009 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 (ā ). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_014520.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MYBBP1A | NM_014520.4 | c.22C>G | p.Gln8Glu | missense_variant | 1/26 | ENST00000254718.9 | |
MYBBP1A | NM_001105538.2 | c.22C>G | p.Gln8Glu | missense_variant | 1/27 | ||
MYBBP1A | XM_024450536.2 | c.22C>G | p.Gln8Glu | missense_variant | 1/25 | ||
MYBBP1A | XM_047435119.1 | c.22C>G | p.Gln8Glu | missense_variant | 1/17 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MYBBP1A | ENST00000254718.9 | c.22C>G | p.Gln8Glu | missense_variant | 1/26 | 1 | NM_014520.4 | P2 | |
MYBBP1A | ENST00000381556.6 | c.22C>G | p.Gln8Glu | missense_variant | 1/27 | 5 | A2 | ||
MYBBP1A | ENST00000570986.1 | n.56C>G | non_coding_transcript_exon_variant | 1/6 | 2 |
Frequencies
GnomAD3 genomes AF: 0.216 AC: 32816AN: 152172Hom.: 3519 Cov.: 34
GnomAD3 exomes AF: 0.209 AC: 47640AN: 228244Hom.: 4943 AF XY: 0.210 AC XY: 26261AN XY: 124826
GnomAD4 exome AF: 0.223 AC: 323191AN: 1451332Hom.: 36485 Cov.: 35 AF XY: 0.222 AC XY: 159982AN XY: 721276
GnomAD4 genome AF: 0.216 AC: 32855AN: 152290Hom.: 3524 Cov.: 34 AF XY: 0.214 AC XY: 15953AN XY: 74466
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | GeneDx | Sep 29, 2020 | This variant is associated with the following publications: (PMID: 23129390) - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at