rs2164808

Variant names:

• chr2-25154307-T-A
• rs2164808
• NM_014971.2:c.2421T>A

Your query was ambiguous. Multiple possible variants found:

• chr2-25154307-T-A
• chr2-25154307-T-C
• chr2-25154307-T-G

Variant summary

Our verdict is Uncertain significance. The variant received 2 ACMG points: 2P and 0B. PM2

The NM_014971.2(EFR3B):​c.2421T>A​(p.Tyr807*) variant causes a stop gained change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000143 in 1,399,784 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency:
  • Genomes: not found (cov: 32)
  • Exomes 𝑓: 0.0000014 (0 hom.)
• Consequence: EFR3B NM_014971.2 stop_gained
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.01
• Publications: 27 publications found

Genes affected

EFR3B (HGNC:29155): (EFR3 homolog B) Involved in phosphatidylinositol phosphate biosynthetic process and protein localization to plasma membrane. Located in actin cytoskeleton; cytosol; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]

ACMG classification

Our verdict: Uncertain_significance. The variant received 2 ACMG points.

• PM2: Very rare variant in population databases, with high coverage

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
EFR3B	NM_014971.2	c.2421T>A	p.Tyr807*	stop_gained	Exon 23 of 23	ENST00000403714.8	NP_055786.1
EFR3B	NM_001319099.2	c.2316T>A	p.Tyr772*	stop_gained	Exon 23 of 23		NP_001306028.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
EFR3B	ENST00000403714.8	c.2421T>A	p.Tyr807*	stop_gained	Exon 23 of 23	5	NM_014971.2	ENSP00000384081.3
EFR3B	ENST00000405108.5	c.1977T>A	p.Tyr659*	stop_gained	Exon 20 of 20	1		ENSP00000384454.1
EFR3B	ENST00000402191.5	c.2316T>A	p.Tyr772*	stop_gained	Exon 23 of 23	5		ENSP00000385832.1
EFR3B	ENST00000264719.5	c.1926T>A	p.Tyr642*	stop_gained	Exon 18 of 18	5		ENSP00000264719.5

Frequencies

GnomAD3 genomes Cov.: 32

GnomAD2 exomes AF: 0.0000127 AC: 2 AN: 157944 AF XY: 0.0000120

Gnomad AFR exome AF: 0.00

Gnomad AMR exome AF: 0.00

Gnomad ASJ exome AF: 0.00

Gnomad EAS exome AF: 0.00

Gnomad FIN exome AF: 0.00

Gnomad NFE exome AF: 0.0000325

Gnomad OTH exome AF: 0.00

GnomAD4 exome AF: 0.00000143 AC: 2 AN: 1399784 Hom.: 0 Cov.: 54 AF XY: 0.00000290 AC XY: 2 AN XY: 690382

African (AFR) AF: 0.00 AC: 0 AN: 31600

American (AMR) AF: 0.00 AC: 0 AN: 35704

Ashkenazi Jewish (ASJ) AF: 0.00 AC: 0 AN: 25182

East Asian (EAS) AF: 0.00 AC: 0 AN: 35738

South Asian (SAS) AF: 0.00 AC: 0 AN: 79234

European-Finnish (FIN) AF: 0.00 AC: 0 AN: 49444

Middle Eastern (MID) AF: 0.00 AC: 0 AN: 5700

European-Non Finnish (NFE) AF: 0.00000185 AC: 2 AN: 1079058

Other (OTH) AF: 0.00 AC: 0 AN: 58124

GnomAD4 genome Cov.: 32

Alfa AF: 0.00000396 Hom.: 49049

ExAC AF: 0.0000797 AC: 2

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_addAF	Pathogenic	0.48	D
BayesDel_noAF	Pathogenic	0.55
CADD	Pathogenic	26
DANN	Uncertain	1.0
Eigen	Benign	-0.16
Eigen_PC	Benign	-0.39
FATHMM_MKL	Benign	0.26	N
PhyloP100		-1.0
Vest4		0.30
GERP RS		0.093
Mutation Taster		=26/174	disease causing

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: rs2164808; hg19: chr2-25377176;