19-42547219-A-T

Position:

• chr19-42547219-A-T

Variant summary

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

The ENST00000600172.1(CEACAM1):​c.-101+13979T>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.475 in 151,646 control chromosomes in the GnomAD database, including 20,728 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 (20728 hom., cov: 29)
• Consequence: CEACAM1 ENST00000600172.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.96

Genes affected

LIPE-AS1 (HGNC:):

CEACAM1 (HGNC:1814): (CEA cell adhesion molecule 1) This gene encodes a member of the carcinoembryonic antigen (CEA) gene family, which belongs to the immunoglobulin superfamily. Two subgroups of the CEA family, the CEA cell adhesion molecules and the pregnancy-specific glycoproteins, are located within a 1.2 Mb cluster on the long arm of chromosome 19. Eleven pseudogenes of the CEA cell adhesion molecule subgroup are also found in the cluster. The encoded protein was originally described in bile ducts of liver as biliary glycoprotein. Subsequently, it was found to be a cell-cell adhesion molecule detected on leukocytes, epithelia, and endothelia. The encoded protein mediates cell adhesion via homophilic as well as heterophilic binding to other proteins of the subgroup. Multiple cellular activities have been attributed to the encoded protein, including roles in the differentiation and arrangement of tissue three-dimensional structure, angiogenesis, apoptosis, tumor suppression, metastasis, and the modulation of innate and adaptive immune responses. Multiple transcript variants encoding different isoforms have been reported, but the full-length nature of all variants has not been defined. [provided by RefSeq, May 2010]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.02).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.814 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
LIPE-AS1	NR_073179.1	n.1451-103868A>T		intron_variant
LIPE-AS1	NR_073180.1	n.205+61996A>T		intron_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
LIPE-AS1	ENST00000594624.7	n.194+61996A>T		intron_variant		1
CEACAM1	ENST00000600172.1	c.-101+13979T>A		intron_variant		5		ENSP00000471566.1
LIPE-AS1	ENST00000594688.1	n.1451-103868A>T		intron_variant		2

Frequencies

GnomAD3 genomes AF: 0.475 AC: 71933 AN: 151524 Hom.: 20672 Cov.: 29

Gnomad AFR AF: 0.821

Gnomad AMI AF: 0.213

Gnomad AMR AF: 0.396

Gnomad ASJ AF: 0.352

Gnomad EAS AF: 0.150

Gnomad SAS AF: 0.324

Gnomad FIN AF: 0.380

Gnomad MID AF: 0.377

Gnomad NFE AF: 0.343

Gnomad OTH AF: 0.431

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

GnomAD4 genome AF: 0.475 AC: 72049 AN: 151646 Hom.: 20728 Cov.: 29 AF XY: 0.469 AC XY: 34729 AN XY: 74064

Gnomad4 AFR AF: 0.822

Gnomad4 AMR AF: 0.396

Gnomad4 ASJ AF: 0.352

Gnomad4 EAS AF: 0.151

Gnomad4 SAS AF: 0.323

Gnomad4 FIN AF: 0.380

Gnomad4 NFE AF: 0.343

Gnomad4 OTH AF: 0.433

Alfa AF: 0.420 Hom.: 1857

Bravo AF: 0.490

Asia WGS AF: 0.316 AC: 1098 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.39
DANN	Benign	0.69

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs10401935; hg19: chr19-43051371;