chr17-80181089-TA-T

Position:

• chr17-80181089-TA-T

Variant summary

Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP6_Moderate BA1

The NM_001366385.1(CARD14):​c.-20-316del variant causes a intron change involving the alteration of a non-conserved nucleotide. Variant has been reported in ClinVar as Benign (★).

• Frequency: Genomes: 𝑓 0.034 (205 hom., cov: 20)
• Consequence: CARD14 NM_001366385.1 intron
• Clinical Significance: Benign criteria provided, single submitter B:1
• Conservation: PhyloP100: 0.511

Genes affected

CARD14 (HGNC:16446): (caspase recruitment domain family member 14) This gene encodes a caspase recruitment domain-containing protein that is a member of the membrane-associated guanylate kinase (MAGUK) family of proteins. Members of this protein family are scaffold proteins that are involved in a diverse array of cellular processes including cellular adhesion, signal transduction and cell polarity control. This protein has been shown to specifically interact with BCL10, a protein known to function as a positive regulator of cell apoptosis and NF-kappaB activation. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2012]

ACMG classification

Verdict is Benign. Variant got -10 ACMG points.

• BP6: Variant 17-80181089-TA-T is Benign according to our data. Variant chr17-80181089-TA-T is described in ClinVar as [Benign]. Clinvar id is 1283751.Status of the report is criteria_provided_single_submitter, 1 stars.
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.105 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
CARD14	NM_001366385.1	c.-20-316del		intron_variant		ENST00000648509.2

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
CARD14	ENST00000648509.2	c.-20-316del		intron_variant			NM_001366385.1	P1

Frequencies

GnomAD3 genomes AF: 0.0342 AC: 4832 AN: 141168 Hom.: 205 Cov.: 20

Gnomad AFR AF: 0.108

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.0208

Gnomad ASJ AF: 0.0174

Gnomad EAS AF: 0.00184

Gnomad SAS AF: 0.00314

Gnomad FIN AF: 0.00624

Gnomad MID AF: 0.0166

Gnomad NFE AF: 0.00286

Gnomad OTH AF: 0.0264

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

GnomAD4 genome AF: 0.0342 AC: 4836 AN: 141216 Hom.: 205 Cov.: 20 AF XY: 0.0339 AC XY: 2309 AN XY: 68202

Gnomad4 AFR AF: 0.108

Gnomad4 AMR AF: 0.0208

Gnomad4 ASJ AF: 0.0174

Gnomad4 EAS AF: 0.00185

Gnomad4 SAS AF: 0.00293

Gnomad4 FIN AF: 0.00624

Gnomad4 NFE AF: 0.00286

Gnomad4 OTH AF: 0.0262

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

Oct 06, 2019

- -

Computational scores

Source: dbNSFP v4.3

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: rs60307812; hg19: chr17-78154888;