rs9972882

chr17-39651445-A-Cchr17-39651445-A-Gchr17-39651445-A-T

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_006804.4(STARD3):c.-51-2036A>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.661 in 152,010 control chromosomes in the GnomAD database, including 33,928 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.66 (33928 hom., cov: 32)
• Consequence: STARD3 NM_006804.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.644

Genes affected

STARD3 (HGNC:17579): (StAR related lipid transfer domain containing 3) This gene encodes a member of a subfamily of lipid trafficking proteins that are characterized by a C-terminal steroidogenic acute regulatory domain and an N-terminal metastatic lymph node 64 domain. The encoded protein localizes to the membranes of late endosomes and may be involved in exporting cholesterol. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.96).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.731 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
STARD3	NM_006804.4	c.-51-2036A>C		intron_variant		ENST00000336308.10

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
STARD3	ENST00000336308.10	c.-51-2036A>C		intron_variant		1	NM_006804.4	P1

Frequencies

GnomAD3 genomes AF: 0.660 AC: 100323 AN: 151892 Hom.: 33898 Cov.: 32

Gnomad AFR AF: 0.539

Gnomad AMI AF: 0.816

Gnomad AMR AF: 0.612

Gnomad ASJ AF: 0.709

Gnomad EAS AF: 0.421

Gnomad SAS AF: 0.748

Gnomad FIN AF: 0.762

Gnomad MID AF: 0.684

Gnomad NFE AF: 0.737

Gnomad OTH AF: 0.661

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.661 AC: 100418 AN: 152010 Hom.: 33928 Cov.: 32 AF XY: 0.659 AC XY: 48945 AN XY: 74278

Gnomad4 AFR AF: 0.540

Gnomad4 AMR AF: 0.613

Gnomad4 ASJ AF: 0.709

Gnomad4 EAS AF: 0.421

Gnomad4 SAS AF: 0.749

Gnomad4 FIN AF: 0.762

Gnomad4 NFE AF: 0.737

Gnomad4 OTH AF: 0.662

Alfa AF: 0.723 Hom.: 63496

Bravo AF: 0.642

Asia WGS AF: 0.654 AC: 2277 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
Cadd	Benign	2.0
Dann	Benign	0.69

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.0		Details are displayed if max score is > 0.2

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Other links and lift over

dbSNP: rs9972882; hg19: chr17-37807698;