rs373237850
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_005236.3(ERCC4):āc.1983A>Cā(p.Ala661=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,370 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. A661A) has been classified as Likely benign.
Frequency
Consequence
NM_005236.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ERCC4 | NM_005236.3 | c.1983A>C | p.Ala661= | synonymous_variant | 10/11 | ENST00000311895.8 | |
ERCC4 | XM_011522424.4 | c.2121A>C | p.Ala707= | synonymous_variant | 11/12 | ||
ERCC4 | XM_047433774.1 | c.1194A>C | p.Ala398= | synonymous_variant | 7/8 | ||
ERCC4 | XM_011522427.2 | c.633A>C | p.Ala211= | synonymous_variant | 5/6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ERCC4 | ENST00000311895.8 | c.1983A>C | p.Ala661= | synonymous_variant | 10/11 | 1 | NM_005236.3 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251200Hom.: 0 AF XY: 0.00000737 AC XY: 1AN XY: 135738
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461370Hom.: 0 Cov.: 30 AF XY: 0.00000138 AC XY: 1AN XY: 727030
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at