chr8-673622-G-A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_207332.3(ERICH1):c.730C>T(p.Arg244Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000187 in 1,549,160 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 (★).
Frequency
Consequence
NM_207332.3 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 |
---|---|---|---|---|---|---|---|
ERICH1 | NM_207332.3 | c.730C>T | p.Arg244Trp | missense_variant | 4/6 | ENST00000262109.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ERICH1 | ENST00000262109.8 | c.730C>T | p.Arg244Trp | missense_variant | 4/6 | 1 | NM_207332.3 | P2 | |
ERICH1 | ENST00000522893.1 | c.37C>T | p.Arg13Trp | missense_variant | 1/2 | 1 | |||
ERICH1 | ENST00000522706.5 | c.448C>T | p.Arg150Trp | missense_variant | 2/4 | 5 | A2 |
Frequencies
GnomAD3 genomes ? AF: 0.0000745 AC: 11AN: 147604Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000159 AC: 4AN: 251450Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135900
GnomAD4 exome AF: 0.0000128 AC: 18AN: 1401556Hom.: 0 Cov.: 33 AF XY: 0.00000861 AC XY: 6AN XY: 697240
GnomAD4 genome ? AF: 0.0000745 AC: 11AN: 147604Hom.: 0 Cov.: 33 AF XY: 0.0000556 AC XY: 4AN XY: 71910
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 28, 2023 | The c.730C>T (p.R244W) alteration is located in exon 4 (coding exon 4) of the ERICH1 gene. This alteration results from a C to T substitution at nucleotide position 730, causing the arginine (R) at amino acid position 244 to be replaced by a tryptophan (W). 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