chr8-66580239-G-A
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_001080416.4(MYBL1):c.995C>T(p.Ala332Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000217 in 1,613,900 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/23 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001080416.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MYBL1 | NM_001080416.4 | c.995C>T | p.Ala332Val | missense_variant | 9/16 | ENST00000522677.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MYBL1 | ENST00000522677.8 | c.995C>T | p.Ala332Val | missense_variant | 9/16 | 1 | NM_001080416.4 | A1 | |
MYBL1 | ENST00000524176.2 | c.995C>T | p.Ala332Val | missense_variant | 9/15 | 1 | P4 | ||
MYBL1 | ENST00000517885.5 | c.318-4106C>T | intron_variant | 5 |
Frequencies
GnomAD3 genomes AF: 0.0000657 AC: 10AN: 152216Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000804 AC: 20AN: 248798Hom.: 0 AF XY: 0.0000445 AC XY: 6AN XY: 134972
GnomAD4 exome AF: 0.0000171 AC: 25AN: 1461566Hom.: 0 Cov.: 31 AF XY: 0.0000110 AC XY: 8AN XY: 727066
GnomAD4 genome AF: 0.0000656 AC: 10AN: 152334Hom.: 0 Cov.: 32 AF XY: 0.0000671 AC XY: 5AN XY: 74500
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jun 07, 2023 | The c.995C>T (p.A332V) alteration is located in exon 9 (coding exon 9) of the MYBL1 gene. This alteration results from a C to T substitution at nucleotide position 995, causing the alanine (A) at amino acid position 332 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at