17-75827639-G-A
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_199242.3(UNC13D):c.*326C>T variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0502 in 1,535,128 control chromosomes in the GnomAD database, including 3,014 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_199242.3 3_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
UNC13D | ENST00000207549 | c.*326C>T | 3_prime_UTR_variant | Exon 32 of 32 | 1 | NM_199242.3 | ENSP00000207549.3 | |||
UNC13D | ENST00000412096.6 | c.3260C>T | p.Ser1087Phe | missense_variant | Exon 33 of 33 | 2 | ENSP00000388093.1 | |||
UNC13D | ENST00000699510 | c.*326C>T | 3_prime_UTR_variant | Exon 20 of 20 | ENSP00000514405.1 | |||||
UNC13D | ENST00000589670.5 | c.*9-194C>T | intron_variant | Intron 3 of 3 | 3 | ENSP00000466758.1 |
Frequencies
GnomAD3 genomes AF: 0.0832 AC: 12657AN: 152176Hom.: 868 Cov.: 33
GnomAD3 exomes AF: 0.0485 AC: 6332AN: 130544Hom.: 262 AF XY: 0.0503 AC XY: 3585AN XY: 71240
GnomAD4 exome AF: 0.0466 AC: 64420AN: 1382834Hom.: 2141 Cov.: 31 AF XY: 0.0473 AC XY: 32255AN XY: 682258
GnomAD4 genome AF: 0.0833 AC: 12684AN: 152294Hom.: 873 Cov.: 33 AF XY: 0.0817 AC XY: 6082AN XY: 74474
ClinVar
Submissions by phenotype
Familial hemophagocytic lymphohistiocytosis 3 Benign:1
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. -
not provided Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at