rs35689550
Variant names:
Your query was ambiguous. Multiple possible variants found:
- chr19-50398570-CAAAAAAAAAAAAAA-C
- chr19-50398570-CAAAAAAAAAAAAAA-CA
- chr19-50398570-CAAAAAAAAAAAAAA-CAA
- chr19-50398570-CAAAAAAAAAAAAAA-CAAA
- chr19-50398570-CAAAAAAAAAAAAAA-CAAAA
- chr19-50398570-CAAAAAAAAAAAAAA-CAAAAA
- chr19-50398570-CAAAAAAAAAAAAAA-CAAAAAA
- chr19-50398570-CAAAAAAAAAAAAAA-CAAAAAAAA
- chr19-50398570-CAAAAAAAAAAAAAA-CAAAAAAAAA
- chr19-50398570-CAAAAAAAAAAAAAA-CAAAAAAAAAA
- chr19-50398570-CAAAAAAAAAAAAAA-CAAAAAAAAAAA
- chr19-50398570-CAAAAAAAAAAAAAA-CAAAAAAAAAAAA
- chr19-50398570-CAAAAAAAAAAAAAA-CAAAAAAAAAAAAA
- chr19-50398570-CAAAAAAAAAAAAAA-CAAAAAAAAAAAAAAA
- chr19-50398570-CAAAAAAAAAAAAAA-CAAAAAAAAAAAAAAAA
- chr19-50398570-CAAAAAAAAAAAAAA-CAAAAAAAAAAAAAAAAA
- chr19-50398570-CAAAAAAAAAAAAAA-CAAAAAAAAAAAAAAAAAA
- chr19-50398570-CAAAAAAAAAAAAAA-CAAAAAAAAAAAAAAAAAAA
- chr19-50398570-CAAAAAAAAAAAAAA-CAAAAAAAAAAAAAAAAAAAA
- chr19-50398570-CAAAAAAAAAAAAAA-CAAAAAAAAAAAAAAAAAAAAA
- chr19-50398570-CAAAAAAAAAAAAAA-CAAAAAAAAAAAAAAAAAAAAAAA
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.
The NM_002691.4(POLD1):c.-1-272_-1-259delAAAAAAAAAAAAAA variant causes a intron change involving the alteration of a non-conserved nucleotide. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.000016 ( 0 hom., cov: 0)
Consequence
POLD1
NM_002691.4 intron
NM_002691.4 intron
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.549
Genes affected
POLD1 (HGNC:9175): (DNA polymerase delta 1, catalytic subunit) This gene encodes the 125-kDa catalytic subunit of DNA polymerase delta. DNA polymerase delta possesses both polymerase and 3' to 5' exonuclease activity and plays a critical role in DNA replication and repair. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 6. [provided by RefSeq, Mar 2012]
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ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
POLD1 | NM_002691.4 | c.-1-272_-1-259delAAAAAAAAAAAAAA | intron_variant | Intron 1 of 26 | ENST00000440232.7 | NP_002682.2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000156 AC: 1AN: 64220Hom.: 0 Cov.: 0
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome AF: 0.0000156 AC: 1AN: 64220Hom.: 0 Cov.: 0 AF XY: 0.0000367 AC XY: 1AN XY: 27266
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ClinVar
Not reported inComputational scores
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Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at