rs2252226

Variant names:

• chr1-159306363-C-A
• rs2252226
• NM_001387280.1:c.589+118C>A

Your query was ambiguous. Multiple possible variants found:

• chr1-159306363-C-A
• chr1-159306363-C-T

Variant summary

Our verdict is Likely benign. The variant received -2 ACMG points: 2P and 4B. PM2 BP4_Strong

The NM_001387280.1(FCER1A):​c.589+118C>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 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: not found (cov: 31)
  • Exomes 𝑓: 0.0 (0 hom.)
  • Failed GnomAD Quality Control
• Consequence: FCER1A NM_001387280.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.514
• Publications: 17 publications found

Genes affected

FCER1A (HGNC:3609): (Fc epsilon receptor Ia) The immunoglobulin epsilon receptor (IgE receptor) is the initiator of the allergic response. When two or more high-affinity IgE receptors are brought together by allergen-bound IgE molecules, mediators such as histamine that are responsible for allergy symptoms are released. This receptor is comprised of an alpha subunit, a beta subunit, and two gamma subunits. The protein encoded by this gene represents the alpha subunit. [provided by RefSeq, Aug 2011]

ACMG classification

Our verdict: Likely_benign. The variant received -2 ACMG points.

• PM2: Very rare variant in population databases, with high coverage
• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.85).

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_001387280.1. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	FCER1A	NM_001387280.1	MANE Select	c.589+118C>A		intron	N/A	NP_001374209.1	P12319
	FCER1A	NM_002001.4		c.589+118C>A		intron	N/A	NP_001992.1	P12319
	FCER1A	NM_001387282.1		c.490+118C>A		intron	N/A	NP_001374211.1	E9PRN1

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	FCER1A	ENST00000693622.1	MANE Select	c.589+118C>A		intron	N/A	ENSP00000509626.1	P12319
	FCER1A	ENST00000368115.5	TSL:1	c.589+118C>A		intron	N/A	ENSP00000357097.1	P12319
	FCER1A	ENST00000368114.1	TSL:3	c.490+118C>A		intron	N/A	ENSP00000357096.1	E9PRN1

Frequencies

GnomAD3 genomes Cov.: 31

GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0 AN: 756540 Hom.: 0 AF XY: 0.00 AC XY: 0 AN XY: 387680

African (AFR) AF: 0.00 AC: 0 AN: 17910

American (AMR) AF: 0.00 AC: 0 AN: 22008

Ashkenazi Jewish (ASJ) AF: 0.00 AC: 0 AN: 16074

East Asian (EAS) AF: 0.00 AC: 0 AN: 33058

South Asian (SAS) AF: 0.00 AC: 0 AN: 53394

European-Finnish (FIN) AF: 0.00 AC: 0 AN: 38222

Middle Eastern (MID) AF: 0.00 AC: 0 AN: 2598

European-Non Finnish (NFE) AF: 0.00 AC: 0 AN: 536866

Other (OTH) AF: 0.00 AC: 0 AN: 36410

GnomAD4 genome Cov.: 31

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.85
CADD	Benign	0.65
DANN	Benign	0.66
PhyloP100		-0.51

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

Other links and lift over

dbSNP: rs2252226; hg19: chr1-159276153;