1-34988276-G-A
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4_StrongBP6BS2
The NM_007167.4(ZMYM6):c.2806C>T(p.Arg936Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00078 in 1,550,370 control chromosomes in the GnomAD database, including 8 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (no stars).
Frequency
Consequence
NM_007167.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ZMYM6 | ENST00000357182.9 | c.2806C>T | p.Arg936Cys | missense_variant | Exon 16 of 16 | 1 | NM_007167.4 | ENSP00000349708.4 | ||
ZMYM6 | ENST00000493328.5 | n.4130C>T | non_coding_transcript_exon_variant | Exon 15 of 15 | 1 | |||||
ENSG00000271741 | ENST00000487874.1 | n.2146+3958C>T | intron_variant | Intron 15 of 16 | 5 | ENSP00000421752.1 |
Frequencies
GnomAD3 genomes AF: 0.00343 AC: 522AN: 152064Hom.: 4 Cov.: 33
GnomAD3 exomes AF: 0.00108 AC: 163AN: 151106Hom.: 0 AF XY: 0.000836 AC XY: 67AN XY: 80176
GnomAD4 exome AF: 0.000481 AC: 673AN: 1398188Hom.: 2 Cov.: 32 AF XY: 0.000421 AC XY: 290AN XY: 689386
GnomAD4 genome AF: 0.00352 AC: 536AN: 152182Hom.: 6 Cov.: 33 AF XY: 0.00350 AC XY: 260AN XY: 74388
ClinVar
Submissions by phenotype
ZMYM6-related disorder Benign:1
This variant is classified as 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