chr8-673456-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.896C>T(p.Ala299Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000198 in 1,461,602 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.896C>T | p.Ala299Val | missense_variant | 4/6 | ENST00000262109.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ERICH1 | ENST00000262109.8 | c.896C>T | p.Ala299Val | missense_variant | 4/6 | 1 | NM_207332.3 | P2 | |
ERICH1 | ENST00000522893.1 | c.203C>T | p.Ala68Val | missense_variant | 1/2 | 1 | |||
ERICH1 | ENST00000522706.5 | c.614C>T | p.Ala205Val | missense_variant | 2/4 | 5 | A2 | ||
ERICH1 | ENST00000518895.1 | n.7C>T | non_coding_transcript_exon_variant | 1/2 | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.00 AC: 5AN: 149952Hom.: 0 Cov.: 34 FAILED QC
GnomAD3 exomes AF: 0.0000199 AC: 5AN: 251460Hom.: 0 AF XY: 0.0000221 AC XY: 3AN XY: 135908
GnomAD4 exome AF: 0.0000198 AC: 29AN: 1461602Hom.: 0 Cov.: 31 AF XY: 0.0000220 AC XY: 16AN XY: 727130
GnomAD4 genome ? Data not reliable, filtered out with message: AS_VQSR AF: 0.0000333 AC: 5AN: 150070Hom.: 0 Cov.: 34 AF XY: 0.0000273 AC XY: 2AN XY: 73286
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 28, 2022 | The c.896C>T (p.A299V) 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 896, causing the alanine (A) at amino acid position 299 to be replaced by a valine (V). 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