rs7047645

Positions:

• chr9-70550717-G-A
• chr9-70550717-G-T

Variant summary

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

The NM_001366145.2(TRPM3):​c.3575-1043C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.479 in 152,094 control chromosomes in the GnomAD database, including 17,942 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 0.48 (17942 hom., cov: 33)
• Consequence: TRPM3 NM_001366145.2 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.09

Genes affected

TRPM3 (HGNC:17992): (transient receptor potential cation channel subfamily M member 3) The product of this gene belongs to the family of transient receptor potential (TRP) channels. TRP channels are cation-selective channels important for cellular calcium signaling and homeostasis. The protein encoded by this gene mediates calcium entry, and this entry is potentiated by calcium store depletion. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.85).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.702 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
TRPM3	NM_001366145.2	c.3575-1043C>T		intron_variant		ENST00000677713.2	NP_001353074.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
TRPM3	ENST00000677713.2	c.3575-1043C>T		intron_variant			NM_001366145.2	ENSP00000503830	P4

Frequencies

GnomAD3 genomes AF: 0.479 AC: 72785 AN: 151976 Hom.: 17943 Cov.: 33

Gnomad AFR AF: 0.391

Gnomad AMI AF: 0.478

Gnomad AMR AF: 0.491

Gnomad ASJ AF: 0.512

Gnomad EAS AF: 0.721

Gnomad SAS AF: 0.325

Gnomad FIN AF: 0.607

Gnomad MID AF: 0.484

Gnomad NFE AF: 0.501

Gnomad OTH AF: 0.481

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

GnomAD4 genome AF: 0.479 AC: 72799 AN: 152094 Hom.: 17942 Cov.: 33 AF XY: 0.481 AC XY: 35733 AN XY: 74346

Gnomad4 AFR AF: 0.390

Gnomad4 AMR AF: 0.491

Gnomad4 ASJ AF: 0.512

Gnomad4 EAS AF: 0.721

Gnomad4 SAS AF: 0.327

Gnomad4 FIN AF: 0.607

Gnomad4 NFE AF: 0.501

Gnomad4 OTH AF: 0.478

Alfa AF: 0.484 Hom.: 2236

Bravo AF: 0.477

Asia WGS AF: 0.467 AC: 1625 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.85
CADD	Benign	7.5
DANN	Benign	0.61

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: rs7047645; hg19: chr9-73165633;