rs1468243

Variant names:

• chr7-11425660-A-T
• rs1468243
• NM_015204.3:c.3250-831T>A

Variant summary

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

The NM_015204.3(THSD7A):​c.3250-831T>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0643 in 151,810 control chromosomes in the GnomAD database, including 664 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 0.064 (664 hom., cov: 31)
• Consequence: THSD7A NM_015204.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.231
• Publications: 1 publications found

Genes affected

THSD7A (HGNC:22207): (thrombospondin type 1 domain containing 7A) The protein encoded by this gene is found almost exclusively in endothelial cells from placenta and umbilical cord. The encoded protein appears to interact with alpha(V)beta(3) integrin and paxillin to inhibit endothelial cell migration and tube formation. This protein may be involved in cytoskeletal organization. Variations in this gene may be associated with low bone mineral density in osteoporosis. [provided by RefSeq, Aug 2010]

ENSG00000230333 (HGNC:):

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.84).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.157 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
THSD7A	NM_015204.3	c.3250-831T>A		intron_variant	Intron 15 of 27	ENST00000423059.9	NP_056019.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
THSD7A	ENST00000423059.9	c.3250-831T>A		intron_variant	Intron 15 of 27	5	NM_015204.3	ENSP00000406482.2
ENSG00000230333	ENST00000445839.5	n.441+41752A>T		intron_variant	Intron 3 of 3	4

Frequencies

GnomAD3 genomes AF: 0.0641 AC: 9723 AN: 151696 Hom.: 653 Cov.: 31

Gnomad AFR AF: 0.160

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.106

Gnomad ASJ AF: 0.0366

Gnomad EAS AF: 0.0571

Gnomad SAS AF: 0.00810

Gnomad FIN AF: 0.0264

Gnomad MID AF: 0.0443

Gnomad NFE AF: 0.00939

Gnomad OTH AF: 0.0624

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

GnomAD4 genome AF: 0.0643 AC: 9765 AN: 151810 Hom.: 664 Cov.: 31 AF XY: 0.0651 AC XY: 4831 AN XY: 74222

African (AFR) AF: 0.160 AC: 6622 AN: 41330

American (AMR) AF: 0.106 AC: 1618 AN: 15230

Ashkenazi Jewish (ASJ) AF: 0.0366 AC: 127 AN: 3468

East Asian (EAS) AF: 0.0567 AC: 292 AN: 5154

South Asian (SAS) AF: 0.00832 AC: 40 AN: 4808

European-Finnish (FIN) AF: 0.0264 AC: 278 AN: 10540

Middle Eastern (MID) AF: 0.0476 AC: 14 AN: 294

European-Non Finnish (NFE) AF: 0.00937 AC: 637 AN: 67970

Other (OTH) AF: 0.0651 AC: 137 AN: 2104

Alfa AF: 0.0417 Hom.: 49

Bravo AF: 0.0769

Asia WGS AF: 0.0550 AC: 190 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.84
CADD	Benign	6.3
DANN	Benign	0.63
PhyloP100		0.23
Mutation Taster		=100/0	polymorphism (auto)

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

Other links and lift over

dbSNP: rs1468243; hg19: chr7-11465287;