rs11947310

Variant names:

• chr4-15742953-A-C
• rs11947310
• ENST00000723151.1:n.187-8639T>G

Your query was ambiguous. Multiple possible variants found:

• chr4-15742953-A-C
• chr4-15742953-A-G
• chr4-15742953-A-T

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The ENST00000723151.1(ENSG00000294363):​n.187-8639T>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.203 in 152,296 control chromosomes in the GnomAD database, including 3,289 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 0.20 (3289 hom., cov: 33)
• Consequence: ENSG00000294363 ENST00000723151.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.07
• Publications: 6 publications found

Genes affected

ENSG00000294363 (HGNC:58739):

BST1 (HGNC:1118): (bone marrow stromal cell antigen 1) Bone marrow stromal cell antigen-1 is a stromal cell line-derived glycosylphosphatidylinositol-anchored molecule that facilitates pre-B-cell growth. The deduced amino acid sequence exhibits 33% similarity with CD38. BST1 expression is enhanced in bone marrow stromal cell lines derived from patients with rheumatoid arthritis. The polyclonal B-cell abnormalities in rheumatoid arthritis may be, at least in part, attributed to BST1 overexpression in the stromal cell population. [provided by RefSeq, Jul 2008]

PFDN1P2 (HGNC:56384): (PFDN1 pseudogene 2)

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.88).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.369 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
BST1	XM_011513878.4	c.851+20019A>C		intron_variant	Intron 8 of 8		XP_011512180.1
BST1	XM_017008566.3	c.852-16191A>C		intron_variant	Intron 8 of 8		XP_016864055.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
ENSG00000294363	ENST00000723151.1	n.187-8639T>G		intron_variant	Intron 2 of 2
BST1	ENST00000850863.1	n.851+20019A>C		intron_variant	Intron 8 of 9			ENSP00000520950.1
PFDN1P2	ENST00000513715.2	n.-243A>C		upstream_gene_variant		6

Frequencies

GnomAD3 genomes AF: 0.203 AC: 30884 AN: 152178 Hom.: 3287 Cov.: 33

Gnomad AFR AF: 0.198

Gnomad AMI AF: 0.225

Gnomad AMR AF: 0.201

Gnomad ASJ AF: 0.249

Gnomad EAS AF: 0.383

Gnomad SAS AF: 0.154

Gnomad FIN AF: 0.178

Gnomad MID AF: 0.155

Gnomad NFE AF: 0.197

Gnomad OTH AF: 0.218

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

GnomAD4 genome AF: 0.203 AC: 30900 AN: 152296 Hom.: 3289 Cov.: 33 AF XY: 0.202 AC XY: 15021 AN XY: 74458

African (AFR) AF: 0.198 AC: 8226 AN: 41558

American (AMR) AF: 0.201 AC: 3068 AN: 15300

Ashkenazi Jewish (ASJ) AF: 0.249 AC: 866 AN: 3472

East Asian (EAS) AF: 0.383 AC: 1988 AN: 5186

South Asian (SAS) AF: 0.154 AC: 742 AN: 4828

European-Finnish (FIN) AF: 0.178 AC: 1886 AN: 10610

Middle Eastern (MID) AF: 0.153 AC: 45 AN: 294

European-Non Finnish (NFE) AF: 0.197 AC: 13416 AN: 68020

Other (OTH) AF: 0.216 AC: 458 AN: 2116

Alfa AF: 0.152 Hom.: 574

Bravo AF: 0.208

Asia WGS AF: 0.239 AC: 833 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.88
CADD	Benign	5.4
DANN	Benign	0.77
PhyloP100		1.1

Splicing

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

Other links and lift over

dbSNP: rs11947310; hg19: chr4-15744576;