NM_001013631.3:c.764delA
Variant names:
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001013631.3(HNRNPCL1):c.764delA(p.Asp255ValfsTer15) variant causes a frameshift change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000535 in 149,472 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Genomes: 𝑓 0.000054 ( 0 hom., cov: 30)
Exomes 𝑓: 0.000054 ( 6 hom. )
Failed GnomAD Quality Control
Consequence
HNRNPCL1
NM_001013631.3 frameshift
NM_001013631.3 frameshift
Scores
Not classified
Clinical Significance
Conservation
PhyloP100: 1.94
Genes affected
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ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 2 ACMG points.
PM2
Very rare variant in population databases, with high coverage;
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000535 AC: 8AN: 149472Hom.: 0 Cov.: 30
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GnomAD3 exomes AF: 0.0000160 AC: 4AN: 250618Hom.: 0 AF XY: 0.00000738 AC XY: 1AN XY: 135522
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GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000535 AC: 78AN: 1456642Hom.: 6 Cov.: 34 AF XY: 0.0000428 AC XY: 31AN XY: 724620
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Data not reliable, filtered out with message: AS_VQSR
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GnomAD4 genome AF: 0.0000535 AC: 8AN: 149472Hom.: 0 Cov.: 30 AF XY: 0.0000412 AC XY: 3AN XY: 72794
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ClinVar
Significance: Uncertain significance
Submissions summary: Uncertain:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
Mayer-Rokitansky-Kuster-Hauser syndrome Uncertain:1
Oct 12, 2016
Mayo Clinic Laboratories, Mayo Clinic
Significance: Uncertain significance
Review Status: criteria provided, single submitter
Collection Method: clinical testing
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at