rs143351214
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4_StrongBP6BS2
The NM_018341.3(ERMARD):c.1246G>A(p.Val416Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00147 in 1,614,020 control chromosomes in the GnomAD database, including 3 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_018341.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ERMARD | NM_018341.3 | c.1246G>A | p.Val416Ile | missense_variant | 13/18 | ENST00000366773.8 | NP_060811.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ERMARD | ENST00000366773.8 | c.1246G>A | p.Val416Ile | missense_variant | 13/18 | 2 | NM_018341.3 | ENSP00000355735 | P2 |
Frequencies
GnomAD3 genomes AF: 0.00139 AC: 211AN: 152190Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00157 AC: 395AN: 251342Hom.: 0 AF XY: 0.00164 AC XY: 223AN XY: 135830
GnomAD4 exome AF: 0.00148 AC: 2157AN: 1461712Hom.: 3 Cov.: 30 AF XY: 0.00143 AC XY: 1042AN XY: 727136
GnomAD4 genome AF: 0.00139 AC: 212AN: 152308Hom.: 0 Cov.: 33 AF XY: 0.00138 AC XY: 103AN XY: 74478
ClinVar
Submissions by phenotype
not specified Uncertain:1Benign:1
Uncertain significance, criteria provided, single submitter | clinical testing | Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia | Aug 19, 2015 | - - |
Benign, criteria provided, single submitter | clinical testing | Genetic Services Laboratory, University of Chicago | May 25, 2017 | - - |
not provided Benign:2
Likely benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Oct 19, 2023 | - - |
Likely benign, criteria provided, single submitter | clinical testing | GeneDx | Jun 29, 2018 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at