1-3727704-G-GACC
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PM4_SupportingPP3
The NM_005427.4(TP73):c.922_924dupCAC(p.His308dup) variant causes a conservative inframe insertion change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000759 in 1,581,364 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_005427.4 conservative_inframe_insertion
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000526 AC: 8AN: 152224Hom.: 0 Cov.: 33
GnomAD4 exome AF: 0.00000280 AC: 4AN: 1429140Hom.: 0 Cov.: 31 AF XY: 0.00000141 AC XY: 1AN XY: 707748
GnomAD4 genome AF: 0.0000526 AC: 8AN: 152224Hom.: 0 Cov.: 33 AF XY: 0.0000538 AC XY: 4AN XY: 74360
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
The c.922_924dupCAC (p.H308dup) alteration is located in exon 8 (coding exon 7) of the TP73 gene. The alteration consists of an in-frame duplication of 3 nucleotides from position 922 to 924, resulting in the duplication of <NA> residues. 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