X-9894539-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PP5_ModerateBP4BS2_Supporting
The NM_001649.4(SHROOM2):c.631G>A(p.Gly211Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00327 in 1,209,486 control chromosomes in the GnomAD database, including 12 homozygotes. There are 1,276 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. 13/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely pathogenic (★).
Frequency
Consequence
NM_001649.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00233 AC: 259AN: 111291Hom.: 1 Cov.: 24 AF XY: 0.00260 AC XY: 87AN XY: 33479
GnomAD3 exomes AF: 0.00346 AC: 632AN: 182798Hom.: 1 AF XY: 0.00343 AC XY: 231AN XY: 67380
GnomAD4 exome AF: 0.00336 AC: 3694AN: 1098146Hom.: 11 Cov.: 32 AF XY: 0.00327 AC XY: 1189AN XY: 363514
GnomAD4 genome AF: 0.00231 AC: 257AN: 111340Hom.: 1 Cov.: 24 AF XY: 0.00259 AC XY: 87AN XY: 33538
ClinVar
Submissions by phenotype
Meniere disease Pathogenic:1
Likely pathogenic, criteria provided, single submitter | case-control | Otology & Neurotology- Genomics of vestibular disorders (CTS-495), Jose Antonio López Escámez, Centro Pfizer - Universidad de Granada - Junta de Andalucía de Genómica e Investigación Oncológica (GENYO) | Jun 21, 2021 | Digenic inheritance along with NM_000260.4:c.3G>A(MYO7A) - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at