rs234

Positions:

• chr7-105920689-A-G
• chr7-105920689-A-T

Variant summary

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

The ENST00000488386.5(CDHR3):​c.-16+43432A>G variant causes a intron, NMD transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.545 in 152,124 control chromosomes in the GnomAD database, including 23,234 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 0.54 (23234 hom., cov: 32)
• Consequence: CDHR3 ENST00000488386.5 intron, NMD_transcript
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.511

Genes affected

CDHR3 (HGNC:26308): (cadherin related family member 3) Predicted to enable cadherin binding activity and calcium ion binding activity. Predicted to be involved in calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules; cell morphogenesis; and cell-cell junction organization. Located in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.98).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.645 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
CDHR3	ENST00000488386.5	c.-16+43432A>G		intron_variant, NMD_transcript_variant		3
CDHR3	ENST00000470188.5	n.818+8051A>G		intron_variant, non_coding_transcript_variant		2
CDHR3	ENST00000472116.1	n.432+1082A>G		intron_variant, non_coding_transcript_variant		2

Frequencies

GnomAD3 genomes AF: 0.545 AC: 82807 AN: 152006 Hom.: 23192 Cov.: 32

Gnomad AFR AF: 0.650

Gnomad AMI AF: 0.469

Gnomad AMR AF: 0.610

Gnomad ASJ AF: 0.467

Gnomad EAS AF: 0.663

Gnomad SAS AF: 0.523

Gnomad FIN AF: 0.474

Gnomad MID AF: 0.516

Gnomad NFE AF: 0.474

Gnomad OTH AF: 0.561

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

GnomAD4 genome AF: 0.545 AC: 82902 AN: 152124 Hom.: 23234 Cov.: 32 AF XY: 0.549 AC XY: 40813 AN XY: 74382

Gnomad4 AFR AF: 0.650

Gnomad4 AMR AF: 0.610

Gnomad4 ASJ AF: 0.467

Gnomad4 EAS AF: 0.664

Gnomad4 SAS AF: 0.524

Gnomad4 FIN AF: 0.474

Gnomad4 NFE AF: 0.474

Gnomad4 OTH AF: 0.558

Alfa AF: 0.498 Hom.: 27445

Bravo AF: 0.562

Asia WGS AF: 0.550 AC: 1915 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
CADD	Benign	5.9
DANN	Benign	0.81

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs234; hg19: chr7-105561135;