chr19-41676643-G-A

Variant names:

• chr19-41676643-G-A
• rs10520341
• NM_001291485.2:c.*36+733C>T

Variant summary

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

The NM_001291485.2(CEACAM7):​c.*36+733C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.241 in 152,144 control chromosomes in the GnomAD database, including 5,026 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 0.24 (5026 hom., cov: 32)
• Consequence: CEACAM7 NM_001291485.2 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.385
• Publications: 2 publications found

Genes affected

CEACAM7 (HGNC:1819): (CEA cell adhesion molecule 7) This gene encodes a cell surface glycoprotein and member of the carcinoembryonic antigen (CEA) family of proteins. Expression of this gene may be downregulated in colon and rectal cancer. Additionally, lower expression levels of this gene may be predictive of rectal cancer recurrence. This gene is present in a CEA family gene cluster on chromosome 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]

ENSG00000308584 (HGNC:):

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.99).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.374 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_001291485.2. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	CEACAM7	NM_001291485.2	MANE Select	c.*36+733C>T		intron	N/A	NP_001278414.1
	CEACAM7	NM_006890.5		c.*36+733C>T		intron	N/A	NP_008821.2

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	CEACAM7	ENST00000401731.6	TSL:2 MANE Select	c.*36+733C>T		intron	N/A	ENSP00000385932.1
	CEACAM7	ENST00000006724.7	TSL:1	c.*36+733C>T		intron	N/A	ENSP00000006724.3
	ENSG00000308584	ENST00000835184.1		n.155+4637G>A		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.242 AC: 36735 AN: 152024 Hom.: 5027 Cov.: 32

Gnomad AFR AF: 0.108

Gnomad AMI AF: 0.397

Gnomad AMR AF: 0.298

Gnomad ASJ AF: 0.298

Gnomad EAS AF: 0.319

Gnomad SAS AF: 0.390

Gnomad FIN AF: 0.276

Gnomad MID AF: 0.354

Gnomad NFE AF: 0.283

Gnomad OTH AF: 0.266

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

GnomAD4 genome AF: 0.241 AC: 36736 AN: 152144 Hom.: 5026 Cov.: 32 AF XY: 0.246 AC XY: 18327 AN XY: 74364

African (AFR) AF: 0.107 AC: 4459 AN: 41540

American (AMR) AF: 0.299 AC: 4566 AN: 15292

Ashkenazi Jewish (ASJ) AF: 0.298 AC: 1036 AN: 3472

East Asian (EAS) AF: 0.319 AC: 1645 AN: 5162

South Asian (SAS) AF: 0.388 AC: 1866 AN: 4806

European-Finnish (FIN) AF: 0.276 AC: 2920 AN: 10574

Middle Eastern (MID) AF: 0.357 AC: 105 AN: 294

European-Non Finnish (NFE) AF: 0.283 AC: 19218 AN: 67982

Other (OTH) AF: 0.265 AC: 560 AN: 2112

Alfa AF: 0.249 Hom.: 670

Bravo AF: 0.236

Asia WGS AF: 0.330 AC: 1149 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
CADD	Benign	0.68
DANN	Benign	0.53
PhyloP100		-0.39
Mutation Taster		=100/0	polymorphism (auto)

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.010		Details are displayed if max score is > 0.2

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

Other links and lift over

dbSNP: rs10520341; hg19: chr19-42180571;