chr2-32415172-A-C
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_016252.4(BIRC6):c.1881A>C(p.Leu627Phe) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000335 in 1,614,028 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_016252.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
BIRC6 | NM_016252.4 | c.1881A>C | p.Leu627Phe | missense_variant | 10/74 | ENST00000421745.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
BIRC6 | ENST00000421745.7 | c.1881A>C | p.Leu627Phe | missense_variant | 10/74 | 1 | NM_016252.4 | P2 | |
BIRC6 | ENST00000700518.1 | c.1881A>C | p.Leu627Phe | missense_variant | 10/73 | A2 | |||
BIRC6 | ENST00000700519.1 | c.1881A>C | p.Leu627Phe | missense_variant | 10/74 | ||||
BIRC6 | ENST00000648282.1 | c.1719A>C | p.Leu573Phe | missense_variant | 10/58 |
Frequencies
GnomAD3 genomes ? AF: 0.0000985 AC: 15AN: 152226Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000120 AC: 30AN: 251022Hom.: 0 AF XY: 0.000133 AC XY: 18AN XY: 135648
GnomAD4 exome AF: 0.0000267 AC: 39AN: 1461684Hom.: 0 Cov.: 31 AF XY: 0.0000316 AC XY: 23AN XY: 727120
GnomAD4 genome ? AF: 0.0000985 AC: 15AN: 152344Hom.: 0 Cov.: 32 AF XY: 0.000121 AC XY: 9AN XY: 74502
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 16, 2023 | The c.1881A>C (p.L627F) alteration is located in exon 10 (coding exon 10) of the BIRC6 gene. This alteration results from a A to C substitution at nucleotide position 1881, causing the leucine (L) at amino acid position 627 to be replaced by a phenylalanine (F). 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