X-68716397-C-T
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_001142503.3(STARD8):c.263C>T(p.Ser88Leu) variant causes a missense change. The variant allele was found at a frequency of 0.0000306 in 1,208,471 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 12 hemizygotes in GnomAD. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001142503.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000632 AC: 7AN: 110843Hom.: 0 Cov.: 23 AF XY: 0.0000605 AC XY: 2AN XY: 33083
GnomAD3 exomes AF: 0.0000437 AC: 8AN: 182920Hom.: 0 AF XY: 0.0000297 AC XY: 2AN XY: 67394
GnomAD4 exome AF: 0.0000273 AC: 30AN: 1097628Hom.: 0 Cov.: 30 AF XY: 0.0000275 AC XY: 10AN XY: 362996
GnomAD4 genome AF: 0.0000632 AC: 7AN: 110843Hom.: 0 Cov.: 23 AF XY: 0.0000605 AC XY: 2AN XY: 33083
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.263C>T (p.S88L) alteration is located in exon 5 (coding exon 5) of the STARD8 gene. This alteration results from a C to T substitution at nucleotide position 263, causing the serine (S) at amino acid position 88 to be replaced by a leucine (L). 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