15-89333596-TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC-TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP3BP6_Very_Strong
The NM_001430120.1(POLGARF):c.202_213dupGCAGCAGCAGCA(p.Ala68_Ala71dup) variant causes a conservative inframe insertion change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000363 in 151,708 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_001430120.1 conservative_inframe_insertion
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
POLG | NM_002693.3 | c.147_158dupGCAGCAGCAGCA | p.Gln50_Gln53dup | disruptive_inframe_insertion | Exon 2 of 23 | ENST00000268124.11 | NP_002684.1 | |
POLGARF | NM_001430120.1 | c.202_213dupGCAGCAGCAGCA | p.Ala68_Ala71dup | conservative_inframe_insertion | Exon 1 of 2 | NP_001417049.1 | ||
POLG | NM_001126131.2 | c.147_158dupGCAGCAGCAGCA | p.Gln50_Gln53dup | disruptive_inframe_insertion | Exon 2 of 23 | NP_001119603.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
POLGARF | ENST00000706918.1 | c.202_213dupGCAGCAGCAGCA | p.Ala68_Ala71dup | conservative_inframe_insertion | Exon 1 of 2 | ENSP00000516626.1 | ||||
POLG | ENST00000268124.11 | c.147_158dupGCAGCAGCAGCA | p.Gln50_Gln53dup | disruptive_inframe_insertion | Exon 2 of 23 | 1 | NM_002693.3 | ENSP00000268124.5 |
Frequencies
GnomAD3 genomes AF: 0.000363 AC: 55AN: 151604Hom.: 0 Cov.: 30
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.000229 AC: 331AN: 1446394Hom.: 0 Cov.: 31 AF XY: 0.000224 AC XY: 161AN XY: 719198
GnomAD4 genome AF: 0.000363 AC: 55AN: 151708Hom.: 0 Cov.: 30 AF XY: 0.000405 AC XY: 30AN XY: 74160
ClinVar
Submissions by phenotype
not specified Benign:1
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Inborn genetic diseases Benign:1
This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. -
not provided Benign:1
See Variant Classification Assertion Criteria. -
Progressive sclerosing poliodystrophy Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at