chrX-72206509-T-C
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_017669.4(ERCC6L):āc.2258A>Gā(p.Gln753Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000711 in 1,209,872 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 34 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. 15/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_017669.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ERCC6L | NM_017669.4 | c.2258A>G | p.Gln753Arg | missense_variant | 2/2 | ENST00000334463.4 | NP_060139.2 | |
ERCC6L | NM_001009954.3 | c.1889A>G | p.Gln630Arg | missense_variant | 3/3 | NP_001009954.1 | ||
PIN4 | NM_001170747.1 | c.312+9605T>C | intron_variant | NP_001164218.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ERCC6L | ENST00000334463.4 | c.2258A>G | p.Gln753Arg | missense_variant | 2/2 | 1 | NM_017669.4 | ENSP00000334675 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000358 AC: 4AN: 111790Hom.: 0 Cov.: 23 AF XY: 0.0000589 AC XY: 2AN XY: 33934
GnomAD3 exomes AF: 0.0000764 AC: 14AN: 183169Hom.: 0 AF XY: 0.000118 AC XY: 8AN XY: 67691
GnomAD4 exome AF: 0.0000747 AC: 82AN: 1098082Hom.: 0 Cov.: 32 AF XY: 0.0000880 AC XY: 32AN XY: 363470
GnomAD4 genome AF: 0.0000358 AC: 4AN: 111790Hom.: 0 Cov.: 23 AF XY: 0.0000589 AC XY: 2AN XY: 33934
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 05, 2022 | The c.2258A>G (p.Q753R) alteration is located in exon 2 (coding exon 2) of the ERCC6L gene. This alteration results from a A to G substitution at nucleotide position 2258, causing the glutamine (Q) at amino acid position 753 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