X-72206450-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The ENST00000334463.4(ERCC6L):c.2317G>A(p.Ala773Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000273 in 1,097,414 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 1 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
ENST00000334463.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ERCC6L | NM_017669.4 | c.2317G>A | p.Ala773Thr | missense_variant | 2/2 | ENST00000334463.4 | NP_060139.2 | |
ERCC6L | NM_001009954.3 | c.1948G>A | p.Ala650Thr | missense_variant | 3/3 | NP_001009954.1 | ||
PIN4 | NM_001170747.1 | c.312+9546C>T | intron_variant | NP_001164218.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ERCC6L | ENST00000334463.4 | c.2317G>A | p.Ala773Thr | missense_variant | 2/2 | 1 | NM_017669.4 | ENSP00000334675 | P1 |
Frequencies
GnomAD3 genomes Cov.: 22
GnomAD4 exome AF: 0.00000273 AC: 3AN: 1097414Hom.: 0 Cov.: 32 AF XY: 0.00000276 AC XY: 1AN XY: 362830
GnomAD4 genome Cov.: 22
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jul 26, 2022 | The c.2317G>A (p.A773T) alteration is located in exon 2 (coding exon 2) of the ERCC6L gene. This alteration results from a G to A substitution at nucleotide position 2317, causing the alanine (A) at amino acid position 773 to be replaced by a threonine (T). 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
Publications
No publications associated with this variant yet.