19-38915624-G-GCCAGGCAGC
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 2P and 16B. PM4BP6_Very_StrongBS1BS2
The NM_017827.4(SARS2):c.1530_1538dupGCTGCCTGG(p.Gly513_Gln514insLeuProGly) variant causes a disruptive inframe insertion change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00225 in 1,612,656 control chromosomes in the GnomAD database, including 17 homozygotes. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_017827.4 disruptive_inframe_insertion
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SARS2 | NM_017827.4 | c.1530_1538dupGCTGCCTGG | p.Gly513_Gln514insLeuProGly | disruptive_inframe_insertion | Exon 16 of 16 | ENST00000221431.11 | NP_060297.1 | |
SARS2 | NM_001145901.2 | c.1536_1544dupGCTGCCTGG | p.Gly515_Gln516insLeuProGly | disruptive_inframe_insertion | Exon 17 of 17 | NP_001139373.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SARS2 | ENST00000221431.11 | c.1530_1538dupGCTGCCTGG | p.Gly513_Gln514insLeuProGly | disruptive_inframe_insertion | Exon 16 of 16 | 1 | NM_017827.4 | ENSP00000221431.6 | ||
ENSG00000269547 | ENST00000599996.1 | c.1737_1745dupGCTGCCTGG | p.Gly582_Gln583insLeuProGly | disruptive_inframe_insertion | Exon 20 of 20 | 2 | ENSP00000472465.1 |
Frequencies
GnomAD3 genomes AF: 0.00153 AC: 233AN: 152178Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00248 AC: 621AN: 250394Hom.: 7 AF XY: 0.00279 AC XY: 378AN XY: 135342
GnomAD4 exome AF: 0.00232 AC: 3394AN: 1460360Hom.: 17 Cov.: 33 AF XY: 0.00240 AC XY: 1745AN XY: 726408
GnomAD4 genome AF: 0.00154 AC: 235AN: 152296Hom.: 0 Cov.: 32 AF XY: 0.00185 AC XY: 138AN XY: 74462
ClinVar
Submissions by phenotype
not provided Uncertain:1Benign:3
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not specified Benign:1
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SARS2-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at