chr17-78223604-G-C
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2
The ENST00000374948.6(BIRC5):c.361G>C(p.Gly121Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0106 in 1,610,766 control chromosomes in the GnomAD database, including 114 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/15 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
ENST00000374948.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
BIRC5 | NM_001168.3 | c.*50G>C | 3_prime_UTR_variant | 4/4 | ENST00000350051.8 | ||
BIRC5 | NM_001012270.2 | c.361G>C | p.Gly121Arg | missense_variant | 3/3 | ||
BIRC5 | NM_001012271.2 | c.*50G>C | 3_prime_UTR_variant | 5/5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
BIRC5 | ENST00000350051.8 | c.*50G>C | 3_prime_UTR_variant | 4/4 | 1 | NM_001168.3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00849 AC: 1293AN: 152226Hom.: 10 Cov.: 33
GnomAD3 exomes AF: 0.00845 AC: 2095AN: 247792Hom.: 13 AF XY: 0.00893 AC XY: 1198AN XY: 134132
GnomAD4 exome AF: 0.0108 AC: 15770AN: 1458422Hom.: 104 Cov.: 34 AF XY: 0.0107 AC XY: 7786AN XY: 725034
GnomAD4 genome ? AF: 0.00848 AC: 1292AN: 152344Hom.: 10 Cov.: 33 AF XY: 0.00765 AC XY: 570AN XY: 74508
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Dec 01, 2023 | BIRC5: BP4, BS1, BS2 - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at