1-35359411-A-G
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_005095.3(ZMYM4):c.572A>G(p.Asp191Gly) variant causes a missense change. The variant allele was found at a frequency of 0.00000636 in 1,573,076 control chromosomes in the GnomAD database, including 1 homozygotes. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_005095.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ZMYM4 | ENST00000314607.11 | c.572A>G | p.Asp191Gly | missense_variant | Exon 3 of 30 | 2 | NM_005095.3 | ENSP00000322915.6 | ||
ZMYM4-AS1 | ENST00000432683.1 | n.113-243T>C | intron_variant | Intron 1 of 1 | 2 | |||||
ZMYM4 | ENST00000441447.1 | c.*182A>G | downstream_gene_variant | 5 | ENSP00000397524.1 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152106Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000949 AC: 2AN: 210706Hom.: 0 AF XY: 0.00000867 AC XY: 1AN XY: 115284
GnomAD4 exome AF: 0.00000633 AC: 9AN: 1420970Hom.: 1 Cov.: 31 AF XY: 0.00000283 AC XY: 2AN XY: 705754
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152106Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74310
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.572A>G (p.D191G) alteration is located in exon 3 (coding exon 3) of the ZMYM4 gene. This alteration results from a A to G substitution at nucleotide position 572, causing the aspartic acid (D) at amino acid position 191 to be replaced by a glycine (G). 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