rs532156048
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 3P and 1B. PM2PP2BP4
The NM_002473.6(MYH9):c.3214G>T(p.Ala1072Ser) variant causes a missense change. The variant allele was found at a frequency of 0.000000684 in 1,461,440 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. A1072T) has been classified as Likely benign.
Frequency
Consequence
NM_002473.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MYH9 | NM_002473.6 | c.3214G>T | p.Ala1072Ser | missense_variant | 25/41 | ENST00000216181.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MYH9 | ENST00000216181.11 | c.3214G>T | p.Ala1072Ser | missense_variant | 25/41 | 1 | NM_002473.6 | P1 | |
MYH9 | ENST00000685801.1 | c.3277G>T | p.Ala1093Ser | missense_variant | 26/42 | ||||
MYH9 | ENST00000459960.1 | n.423G>T | non_coding_transcript_exon_variant | 1/2 | 2 | ||||
MYH9 | ENST00000691109.1 | n.3509G>T | non_coding_transcript_exon_variant | 19/35 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461440Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 726994
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at