rs543410

Variant names:

• chr12-57431587-C-T
• rs543410
• ENST00000547552.1:n.315+157C>T

Variant summary

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

The ENST00000547552.1(R3HDM2-DT):​n.315+157C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.436 in 151,978 control chromosomes in the GnomAD database, including 15,215 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 0.44 (15215 hom., cov: 32)
• Consequence: R3HDM2-DT ENST00000547552.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.52
• Publications: 5 publications found

Genes affected

R3HDM2-DT (HGNC:55457): (R3HDM2 divergent transcript)

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.65).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.502 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000547552.1. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	R3HDM2-DT	NR_185976.1		n.315+157C>T		intron	N/A

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	R3HDM2-DT	ENST00000547552.1	TSL:4	n.315+157C>T		intron	N/A
	R3HDM2-DT	ENST00000727995.1		n.-89C>T		upstream_gene	N/A

Frequencies

GnomAD3 genomes AF: 0.436 AC: 66146 AN: 151860 Hom.: 15194 Cov.: 32

Gnomad AFR AF: 0.302

Gnomad AMI AF: 0.475

Gnomad AMR AF: 0.511

Gnomad ASJ AF: 0.368

Gnomad EAS AF: 0.419

Gnomad SAS AF: 0.518

Gnomad FIN AF: 0.582

Gnomad MID AF: 0.171

Gnomad NFE AF: 0.478

Gnomad OTH AF: 0.406

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

GnomAD4 genome AF: 0.436 AC: 66194 AN: 151978 Hom.: 15215 Cov.: 32 AF XY: 0.442 AC XY: 32836 AN XY: 74270

African (AFR) AF: 0.301 AC: 12479 AN: 41446

American (AMR) AF: 0.512 AC: 7808 AN: 15256

Ashkenazi Jewish (ASJ) AF: 0.368 AC: 1276 AN: 3472

East Asian (EAS) AF: 0.419 AC: 2159 AN: 5156

South Asian (SAS) AF: 0.517 AC: 2494 AN: 4822

European-Finnish (FIN) AF: 0.582 AC: 6139 AN: 10554

Middle Eastern (MID) AF: 0.173 AC: 51 AN: 294

European-Non Finnish (NFE) AF: 0.478 AC: 32492 AN: 67964

Other (OTH) AF: 0.411 AC: 865 AN: 2106

Alfa AF: 0.454 Hom.: 3970

Bravo AF: 0.425

Asia WGS AF: 0.457 AC: 1592 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.65
CADD	Benign	2.5
DANN	Benign	0.89
PhyloP100		-1.5

Splicing

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

MaxEntScan Visualizer can be used to analyze the impact of this mutation on the neighboring sequence.

Other links and lift over

dbSNP: rs543410;

hg19: chr12-57825370;