3-9934334-G-T

Variant summary

Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_Strong BP6_Moderate BA1

The ENST00000383811.8(CRELD1):c.-105G>T variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0163 in 1,077,832 control chromosomes in the GnomAD database, including 1,028 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).

• Frequency:
  • Genomes: 𝑓 0.051 (577 hom., cov: 31)
  • Exomes 𝑓: 0.011 (451 hom.)
• Consequence: CRELD1 ENST00000383811.8 5_prime_UTR
• Clinical Significance: Benign criteria provided, single submitter B:1
• Conservation: PhyloP100: 0.475

Genes affected

CRELD1 (HGNC:14630): (cysteine rich with EGF like domains 1) This gene encodes a member of a subfamily of epidermal growth factor-related proteins. The encoded protein is characterized by a cysteine-rich with epidermal growth factor-like domain. This protein may function as a cell adhesion molecule. Mutations in this gene are the cause of atrioventricular septal defect. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2010]

(HGNC:):

ACMG classification

Verdict is Benign. Variant got -14 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.85).
• BP6: Variant 3-9934334-G-T is Benign according to our data. Variant chr3-9934334-G-T is described in ClinVar as [Benign]. Clinvar id is 1275722.Status of the report is criteria_provided_single_submitter, 1 stars.
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.162 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
CRELD1	NM_001077415.3	c.-19-86G>T		intron_variant		ENST00000452070.6

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
CRELD1	ENST00000452070.6	c.-19-86G>T		intron_variant		2	NM_001077415.3	P1

Frequencies

GnomAD3 genomes AF: 0.0509 AC: 7729 AN: 151740 Hom.: 575 Cov.: 31

Gnomad AFR AF: 0.166

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.0268

Gnomad ASJ AF: 0.00

Gnomad EAS AF: 0.0213

Gnomad SAS AF: 0.0477

Gnomad FIN AF: 0.00

Gnomad MID AF: 0.0190

Gnomad NFE AF: 0.000824

Gnomad OTH AF: 0.0404

GnomAD4 exome AF: 0.0106 AC: 9854 AN: 925974 Hom.: 451 Cov.: 12 AF XY: 0.0110 AC XY: 5273 AN XY: 481024

Gnomad4 AFR exome AF: 0.171

Gnomad4 AMR exome AF: 0.0304

Gnomad4 ASJ exome AF: 0.0000441

Gnomad4 EAS exome AF: 0.0179

Gnomad4 SAS exome AF: 0.0390

Gnomad4 FIN exome AF: 0.000217

Gnomad4 NFE exome AF: 0.000558

Gnomad4 OTH exome AF: 0.0151

GnomAD4 genome AF: 0.0510 AC: 7743 AN: 151858 Hom.: 577 Cov.: 31 AF XY: 0.0496 AC XY: 3680 AN XY: 74218

Gnomad4 AFR AF: 0.166

Gnomad4 AMR AF: 0.0269

Gnomad4 ASJ AF: 0.00

Gnomad4 EAS AF: 0.0213

Gnomad4 SAS AF: 0.0475

Gnomad4 FIN AF: 0.00

Gnomad4 NFE AF: 0.000824

Gnomad4 OTH AF: 0.0400

Alfa AF: 0.00225 Hom.: 4

Bravo AF: 0.0587

Asia WGS AF: 0.0290 AC: 101 AN: 3478

ClinVar

Significance: Benign

Submissions summary: Benign:1

Revision: criteria provided, single submitter

Submissions by phenotype

not provided Benign:1

Benign, criteria provided, single submitter

clinical testing

GeneDx

Nov 12, 2018

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Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.85
Cadd	Benign	10
Dann	Benign	0.72
RBP_binding_hub_radar		0.0
RBP_regulation_power_radar		1.0

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: rs57022843; hg19: chr3-9976018;