6-3129196-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_004332.4(BPHL):āc.530A>Gā(p.Glu177Gly) variant causes a missense, splice region change. The variant allele was found at a frequency of 0.000014 in 1,573,540 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/23 in silico tools predict a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_004332.4 missense, splice_region
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000788 AC: 12AN: 152244Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000276 AC: 6AN: 217374Hom.: 0 AF XY: 0.00000860 AC XY: 1AN XY: 116302
GnomAD4 exome AF: 0.00000704 AC: 10AN: 1421296Hom.: 0 Cov.: 31 AF XY: 0.00000569 AC XY: 4AN XY: 702954
GnomAD4 genome AF: 0.0000788 AC: 12AN: 152244Hom.: 0 Cov.: 33 AF XY: 0.0000538 AC XY: 4AN XY: 74386
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 11, 2024 | The c.530A>G (p.E177G) alteration is located in exon 4 (coding exon 4) of the BPHL gene. This alteration results from a A to G substitution at nucleotide position 530, causing the glutamic acid (E) at amino acid position 177 to be replaced by a glycine (G). 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