chr1-42830906-A-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001017922.2(ERMAP):āc.224A>Gā(p.Gln75Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000248 in 1,614,090 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 Uncertain significance (ā ).
Frequency
Consequence
NM_001017922.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ERMAP | NM_001017922.2 | c.224A>G | p.Gln75Arg | missense_variant | 4/12 | ENST00000372517.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ERMAP | ENST00000372517.8 | c.224A>G | p.Gln75Arg | missense_variant | 4/12 | 1 | NM_001017922.2 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000723 AC: 11AN: 152160Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000139 AC: 35AN: 251128Hom.: 0 AF XY: 0.000111 AC XY: 15AN XY: 135726
GnomAD4 exome AF: 0.0000198 AC: 29AN: 1461812Hom.: 0 Cov.: 32 AF XY: 0.0000165 AC XY: 12AN XY: 727196
GnomAD4 genome AF: 0.0000722 AC: 11AN: 152278Hom.: 0 Cov.: 32 AF XY: 0.0000940 AC XY: 7AN XY: 74472
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jun 18, 2021 | The c.224A>G (p.Q75R) alteration is located in exon 3 (coding exon 2) of the ERMAP gene. This alteration results from a A to G substitution at nucleotide position 224, causing the glutamine (Q) at amino acid position 75 to be replaced by an arginine (R). 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