rs11083616

Positions:

• chr19-41359738-G-A

Variant summary

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

The NM_030578.4(B9D2):​c.89-1716C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.598 in 151,754 control chromosomes in the GnomAD database, including 27,459 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 0.60 (27459 hom., cov: 30)
• Consequence: B9D2 NM_030578.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0760

Genes affected

B9D2 (HGNC:28636): (B9 domain containing 2) This gene encodes a B9 domain protein, which are exclusively found in ciliated organisms. The gene is upregulated during mucociliary differentiation, and the encoded protein localizes to basal bodies and cilia. Disrupting expression of this gene results in ciliogenesis defects. [provided by RefSeq, Oct 2009]

TMEM91 (HGNC:32393): (transmembrane protein 91) Predicted to act upstream of or within hematopoietic progenitor cell differentiation. Predicted to be integral component of membrane. Predicted to be active in intracellular membrane-bounded organelle and membrane. [provided by Alliance of Genome Resources, Apr 2022]

ENSG00000255730 (HGNC:):

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.97).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.606 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
B9D2	NM_030578.4	c.89-1716C>T		intron_variant		ENST00000243578.8	NP_085055.2
B9D2	XM_011527349.3	c.89-1716C>T		intron_variant			XP_011525651.1
B9D2	XM_011527350.3	c.-71-1716C>T		intron_variant			XP_011525652.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
B9D2	ENST00000243578.8	c.89-1716C>T		intron_variant		1	NM_030578.4	ENSP00000243578.2

Frequencies

GnomAD3 genomes AF: 0.598 AC: 90695 AN: 151638 Hom.: 27458 Cov.: 30

Gnomad AFR AF: 0.607

Gnomad AMI AF: 0.787

Gnomad AMR AF: 0.523

Gnomad ASJ AF: 0.499

Gnomad EAS AF: 0.444

Gnomad SAS AF: 0.547

Gnomad FIN AF: 0.714

Gnomad MID AF: 0.544

Gnomad NFE AF: 0.611

Gnomad OTH AF: 0.573

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

GnomAD4 genome AF: 0.598 AC: 90728 AN: 151754 Hom.: 27459 Cov.: 30 AF XY: 0.598 AC XY: 44328 AN XY: 74132

Gnomad4 AFR AF: 0.606

Gnomad4 AMR AF: 0.522

Gnomad4 ASJ AF: 0.499

Gnomad4 EAS AF: 0.445

Gnomad4 SAS AF: 0.547

Gnomad4 FIN AF: 0.714

Gnomad4 NFE AF: 0.611

Gnomad4 OTH AF: 0.569

Alfa AF: 0.597 Hom.: 30862

Bravo AF: 0.584

Asia WGS AF: 0.507 AC: 1760 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.97
CADD	Benign	2.3
DANN	Benign	0.28

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.010		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: rs11083616; hg19: chr19-41865643;