rs13393791

Variant names:

• chr2-3256295-T-C
• rs13393791
• NM_003310.5:c.416+1004A>G

Variant summary

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

The NM_001330530.3(EIPR1):​c.497+1004A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.107 in 152,110 control chromosomes in the GnomAD database, including 908 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 0.11 (908 hom., cov: 33)
• Consequence: EIPR1 NM_001330530.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.590
• Publications: 2 publications found

Genes affected

EIPR1 (HGNC:12383): (EARP complex and GARP complex interacting protein 1) This gene has been reported in PMID 9403053 as one of several tumor-suppressing subtransferable fragments located in the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. Alignment of this gene to genomic sequence data suggests that this gene resides on chromosome 2 rather than chromosome 11. [provided by RefSeq, Dec 2008]

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.86).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.133 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_001330530.3. 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
	EIPR1	NM_003310.5	MANE Select	c.416+1004A>G		intron	N/A	NP_003301.1
	EIPR1	NM_001330530.3		c.497+1004A>G		intron	N/A	NP_001317459.1
	EIPR1	NM_001330531.3		c.-16-42047A>G		intron	N/A	NP_001317460.1

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	EIPR1	ENST00000382125.9	TSL:1 MANE Select	c.416+1004A>G		intron	N/A	ENSP00000371559.4
	EIPR1	ENST00000864323.1		c.506+1004A>G		intron	N/A	ENSP00000534382.1
	EIPR1	ENST00000398659.8	TSL:5	c.497+1004A>G		intron	N/A	ENSP00000381652.4

Frequencies

GnomAD3 genomes AF: 0.107 AC: 16265 AN: 151992 Hom.: 908 Cov.: 33

Gnomad AFR AF: 0.136

Gnomad AMI AF: 0.0417

Gnomad AMR AF: 0.0677

Gnomad ASJ AF: 0.0733

Gnomad EAS AF: 0.0580

Gnomad SAS AF: 0.121

Gnomad FIN AF: 0.154

Gnomad MID AF: 0.0506

Gnomad NFE AF: 0.0971

Gnomad OTH AF: 0.0863

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

GnomAD4 genome AF: 0.107 AC: 16288 AN: 152110 Hom.: 908 Cov.: 33 AF XY: 0.108 AC XY: 8049 AN XY: 74342

African (AFR) AF: 0.136 AC: 5657 AN: 41508

American (AMR) AF: 0.0676 AC: 1034 AN: 15288

Ashkenazi Jewish (ASJ) AF: 0.0733 AC: 254 AN: 3466

East Asian (EAS) AF: 0.0581 AC: 300 AN: 5164

South Asian (SAS) AF: 0.121 AC: 581 AN: 4818

European-Finnish (FIN) AF: 0.154 AC: 1627 AN: 10562

Middle Eastern (MID) AF: 0.0510 AC: 15 AN: 294

European-Non Finnish (NFE) AF: 0.0971 AC: 6602 AN: 67990

Other (OTH) AF: 0.0854 AC: 180 AN: 2108

Alfa AF: 0.0969 Hom.: 920

Bravo AF: 0.0998

Asia WGS AF: 0.101 AC: 352 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.86
CADD	Benign	6.0
DANN	Benign	0.48
PhyloP100		0.59
Mutation Taster		=100/0	polymorphism (auto)

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: rs13393791; hg19: chr2-3260066;